KCNH2 potassium voltage-gated channel subfamily H member 2

Annotation transcript: NM_000238.4

1343 unique variant annotations were identified in 989 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
7-150642463-G-A c.3470C>T p.P1157L Missense 15/15 - 3
7-150642473-C-T c.3460G>A p.G1154S Missense 15/15 - 2
7-150642476-G-A c.3457C>T p.H1153Y Missense 15/15 - 1
7-150642496-G-C c.3437C>G p.T1146S Missense 15/15 - 1
7-150642497-T-A c.3436A>T p.T1146S Missense 15/15 - 1
7-150642498-G-A c.3435C>T p.L1145= Synonymous 15/15 - 1
7-150642508-CAG-C c.3424_3425del p.L1142Gfs*127 Frameshift 15/15 - 1
7-150642523-GA-TC c.3409_3410inv p.S1137D Missense 15/15 - 1
7-150642524-A-C c.3409T>G p.S1137A Missense 15/15 - 3
7-150642529-C-T c.3404G>A p.R1135H Missense 15/15 - 14
7-150642533-G-A c.3400C>T p.R1134* Nonsense 15/15 - 1
7-150642534-TGT-ACA c.3397_3399inv p.T1133C Missense 15/15 - 1
7-150642586-G-A c.3347C>T p.A1116V Missense 15/15 - 17
7-150643973-G-C c.3322C>G p.L1108V Missense 14/15 - 2
7-150644017-G-A c.3278C>T p.P1093L Missense 14/15 - 2
7-150644061-G-C c.3234C>G p.Y1078* Nonsense 14/15 - 1
7-150644061-G-T c.3234C>A p.Y1078* Nonsense 14/15 - 1
7-150644062-TA-GC c.3232_3233delinsGC p.Y1078A Missense 14/15 - 1
7-150644062-T-C c.3233A>G p.Y1078C Missense 14/15 - 1
7-150644071-G-A c.3224C>T p.P1075L Missense 14/15 - 1
7-150644087-G-A c.3208C>T p.Q1070* Nonsense 14/15 - 10
7-150644092-T-C c.3203A>G p.Q1068R Missense 14/15 - 6
7-150644091-CTG-C c.3202_3203del p.Q1068Efs*50 Frameshift 14/15 - 1
7-150644093-G-A c.3202C>T p.Q1068* Nonsense 14/15 - 1
7-150644093-G-GT c.3201dup p.Q1068Tfs*51 Frameshift 14/15 - 1
7-150644099-G-C c.3196C>G p.L1066V Missense 14/15 - 3
7-150644122-G-T c.3173C>A p.A1058E Missense 14/15 - 2
7-150644131-C-T c.3164G>A p.R1055Q Missense 14/15 - 4
7-150644138-C-T c.3157G>A p.E1053K Missense 14/15 - 1
7-150644394-C-A c.3152+22G>T - IntronicSNV - 13/14 17
7-150644394-C-G c.3152+22G>C - IntronicSNV - 13/14 17
7-150644394-C-T c.3152+22G>A - IntronicSNV - 13/14 17
7-150644422-A-G c.3146T>C p.L1049P Missense 13/15 - 2
7-150644428-C-A c.3140G>T p.R1047L Missense 13/15 - 43
7-150644428-C-T c.3140G>A p.R1047H Missense 13/15 - 6
7-150644429-G-A c.3139C>T p.R1047C Missense 13/15 - 1
7-150644440-T-C c.3128A>G p.D1043G Missense 13/15 - 1
7-150644444-G-C c.3124C>G p.L1042V Missense 13/15 - 1
7-150644450-T-C c.3118A>G p.S1040G Missense 13/15 - 3
7-150644453-C-A c.3115G>T p.E1039* Nonsense 13/15 - 2
7-150644455-A-ACGTCGCCC c.3105_3112dup p.V1038Gfs*22 Frameshift 13/15 - 1
7-150644458-T-A c.3110A>T p.D1037V Missense 13/15 - 3
7-150644461-C-T c.3107G>A p.G1036D Missense 13/15 - 3
7-150644460-G-GC c.3107dup p.D1037Rfs*82 Frameshift 13/15 - 1
7-150644465-G-A c.3103C>T p.R1035W Missense 13/15 - 2
7-150644464-CG-C c.3103del p.R1035Gfs*22 Frameshift 13/15 - 1
7-150644468-G-GCCGCC c.3095_3099dup p.P1034Gfs*25 Frameshift 13/15 - 1
7-150644468-G-GCCGC c.3096_3099dup p.P1034Afs*86 Frameshift 13/15 - 1
7-150644470-C-A c.3098G>T p.R1033L Missense 13/15 - 1
7-150644471-G-A c.3097C>T p.R1033W Missense 13/15 - 4
7-150644474-G-A c.3094C>T p.R1032W Missense 13/15 - 2
7-150644491-G-A c.3077C>T p.P1026L Missense 13/15 - 2
7-150644491-G-C c.3077C>G p.P1026R Missense 13/15 - 1
7-150644488-A-AG c.3079dup p.L1027Pfs*92 Frameshift 13/15 - 1
7-150644498-TGAG-T c.3067_3069del p.L1023del InFrameDeletion 13/15 - 1
7-150644509-G-A c.3059C>T p.P1020L Missense 13/15 - 1
7-150644507-T-TG c.3060dup p.S1021Qfs*98 Frameshift 13/15 - 1
7-150644513-T-G c.3055A>C p.T1019P Missense 13/15 - 1
7-150644516-G-A c.3052C>T p.P1018S Missense 13/15 - 1
7-150644516-G-C c.3052C>G p.P1018A Missense 13/15 - 2
7-150644521-G-A c.3047C>T p.P1016L Missense 13/15 - 1
7-150644522-G-A c.3046C>T p.P1016S Missense 13/15 - 1
7-150644527-CG-GT c.3040_3041delinsAC p.R1014T Missense 13/15 - 1
7-150644528-G-A c.3040C>T p.R1014* Nonsense 13/15 - 16
7-150644533-A-G c.3035T>C p.L1012P Missense 13/15 - 1
7-150644536-T-A c.3032A>T p.E1011V Missense 13/15 - 1
7-150644548-C-T c.3020G>A p.R1007H Missense 13/15 - 2
7-150644548-C-CG c.3019dup p.R1007Pfs*112 Frameshift 13/15 - 1
7-150644550-GC-G c.3017del p.G1006Afs*51 Frameshift 13/15 - 1
7-150644554-C-T c.3014G>A p.R1005Q Missense 13/15 - 4
7-150644565-C-T c.3003G>A p.W1001* Nonsense 13/15 - 7
7-150644566-C-T c.3002G>A p.W1001* Nonsense 13/15 - 7
7-150644581-T-A c.2987A>T p.N996I Missense 13/15 - 22
7-150644600-C-CGCCT c.2966-2_2967dup p.A990Rfs*130 IntronicInsertion 13/15 - 1
7-150644610-C-T c.2966-8G>A - IntronicSNV - 12/14 1
7-150644699-CA-C c.2960del p.L987Rfs*70 Frameshift 12/15 - 2
7-150644699-CAG-C c.2959_2960del p.L987Vfs*131 Frameshift 12/15 - 2
7-150644699-AG-A c.2959del p.L987Cfs*70 Frameshift 12/15 - 1
7-150644705-T-C c.2954A>G p.N985S Missense 12/15 - 2
7-150644711-G-A c.2948C>T p.T983I Missense 12/15 - 10
7-150644715-C-T c.2944G>A p.D982N Missense 12/15 - 1
7-150644718-T-C c.2941A>G p.S981G Missense 12/15 - 2
7-150644727-C-A c.2932G>T p.E978* Nonsense 12/15 - 1
7-150644741-A-AGG c.2916_2917dup p.L973Pfs*2 Frameshift 12/15 - 1
7-150644756-G-A c.2903C>T p.P968L Missense 12/15 - 2
7-150644759-G-A c.2900C>T p.P967L Missense 12/15 - 3
7-150644758-C-CG c.2900dup p.P968Afs*151 Frameshift 12/15 - 1
7-150644766-C-A c.2893G>T p.G965* Nonsense 12/15 - 2
7-150644766-C-G c.2893G>C p.G965R Missense 12/15 - 2
7-150644766-C-T c.2893G>A p.G965R Missense 12/15 - 2
7-150644772-G-T c.2887C>A p.P963T Missense 12/15 - 1
7-150644796-G-C c.2863C>G p.L955V Missense 12/15 - 1
7-150644799-G-A c.2860C>T p.R954C Missense 12/15 - 6
7-150644816-C-T c.2843G>A p.R948H Missense 12/15 - 2
7-150644817-G-T c.2842C>A p.R948S Missense 12/15 - 2
7-150644858-C-A c.2801G>T p.G934V Missense 12/15 - 2
7-150644878-C-T c.2781G>A p.W927* Nonsense 12/15 - 7
7-150644879-C-T c.2780G>A p.W927* Nonsense 12/15 - 7
7-150644880-A-C c.2779T>G p.W927G Missense 12/15 - 5
7-150644888-C-A c.2771G>T p.G924V Missense 12/15 - 2
7-150644888-C-G c.2771G>C p.G924A Missense 12/15 - 7
7-150644888-C-T c.2771G>A p.G924E Missense 12/15 - 3
7-150644883-GC-G c.2775del p.P926Rfs*48 Frameshift 12/15 - 1
7-150644883-G-GC c.2775dup p.P926Afs*14 Frameshift 12/15 - 9
7-150644890-CG-C c.2768del p.P923Rfs*51 Frameshift 12/15 - 1
7-150644895-G-A c.2764C>T p.R922W Missense 12/15 - 1
7-150644909-G-A c.2750C>T p.P917L Missense 12/15 - 2
7-150644915-G-A c.2744C>T p.A915V Missense 12/15 - 3
7-150644921-G-A c.2738C>T p.A913V Missense 12/15 - 10
7-150644930-G-A c.2729C>T p.P910L Missense 12/15 - 1
7-150644933-C-T c.2726G>A p.G909E Missense 12/15 - 1
7-150644952-C-G c.2707G>C p.G903R Missense 12/15 - 1
7-150644952-C-T c.2707G>A p.G903R Missense 12/15 - 2
7-150645533-C-T c.2691G>A p.K897= Synonymous 11/15 - 1
7-150645534-T-A c.2690A>T p.K897M Missense 11/15 - 24
7-150645534-T-C c.2690A>G p.K897R Missense 11/15 - 26
7-150645534-T-G c.2690A>C p.K897T Missense 11/15 - 157
7-150645537-TC-CG c.2686_2687delinsCG p.D896R Missense 11/15 - 1
7-150645539-CGT-GTC c.2683_2685delinsGAC p.T895D Missense 11/15 - 1
7-150645539-C-CGG c.2684_2685insCC p.D896Rfs*79 Frameshift 11/15 - 1
7-150645540-G-A c.2684C>T p.T895M Missense 11/15 - 5
7-150645541-T-C c.2683A>G p.T895A Missense 11/15 - 3
7-150645543-C-T c.2681G>A p.R894H Missense 11/15 - 1
7-150645550-G-A c.2674C>T p.R892C Missense 11/15 - 3
7-150645553-A-T c.2671T>A p.F891I Missense 11/15 - 1
7-150645555-GA-TC c.2668_2669inv p.S890D Missense 11/15 - 1
7-150645555-G-C c.2669C>G p.S890C Missense 11/15 - 1
7-150645556-A-C c.2668T>G p.S890A Missense 11/15 - 4
7-150645564-C-T c.2660G>A p.R887H Missense 11/15 - 2
7-150645571-G-A c.2653C>T p.R885C Missense 11/15 - 4
7-150645585-C-A c.2639G>T p.G880V Missense 11/15 - 2
7-150645600-G-A c.2624C>T p.T875M Missense 11/15 - 2
7-150645607-C-T c.2617G>A p.G873S Missense 11/15 - 6
7-150645612-G-C c.2612C>G p.S871C Missense 11/15 - 1
7-150645615-C-G c.2609G>C p.G870A Missense 11/15 - 1
7-150645618-G-A c.2606C>T p.P869L Missense 11/15 - 1
7-150645682-G-A c.2593-51C>T - IntronicSNV - 10/14 1
7-150645943-C-T c.2592+1G>A - IntronicSNV - 10/14 1
7-150645948-CG-TC c.2587_2588delinsGA p.R863E Missense 10/15 - 1
7-150645948-C-T c.2588G>A p.R863Q Missense 10/15 - 1
7-150645949-G-A c.2587C>T p.R863* Nonsense 10/15 - 7
7-150645951-AG-CC c.2584_2585delinsGG p.L862G Missense 10/15 - 1
7-150645951-AG-GC c.2584_2585delinsGC p.L862A Missense 10/15 - 2
7-150645954-T-A c.2582A>T p.N861I Missense 10/15 - 6
7-150645954-TT-GC c.2581_2582delinsGC p.N861A Missense 10/15 - 2
7-150645955-T-G c.2581A>C p.N861H Missense 10/15 - 3
7-150645956-GAA-CTC c.2578_2580delinsGAG p.F860E Missense 10/15 - 1
7-150645956-GA-CC c.2579_2580delinsGG p.F860W Missense 10/15 - 1
7-150645957-AA-CC c.2578_2579delinsGG p.F860G Missense 10/15 - 1
7-150645957-AA-CG c.2578_2579delinsCG p.F860R Missense 10/15 - 2
7-150645957-AA-GC c.2578_2579delinsGC p.F860A Missense 10/15 - 2
7-150645957-A-T c.2579T>A p.F860Y Missense 10/15 - 1
7-150645956-G-C c.2580C>G p.F860L Missense 10/15 - 1
7-150645956-G-T c.2580C>A p.F860L Missense 10/15 - 1
7-150645958-A-G c.2578T>C p.F860L Missense 10/15 - 1
7-150645963-A-G c.2573T>C p.I858T Missense 10/15 - 2
7-150645966-TC-CT c.2569_2570delinsAG p.E857R Missense 10/15 - 1
7-150645971-G-C c.2565C>G p.S855R Missense 10/15 - 1
7-150645971-G-T c.2565C>A p.S855R Missense 10/15 - 1
7-150645973-T-G c.2563A>C p.S855R Missense 10/15 - 1
7-150646000-G-T c.2536C>A p.P846T Missense 10/15 - 2
7-150646015-C-A c.2521G>T p.V841L Missense 10/15 - 2
7-150646015-C-G c.2521G>C p.V841L Missense 10/15 - 2
7-150646020-A-G c.2516T>C p.L839P Missense 10/15 - 1
7-150646026-T-C c.2510A>G p.D837G Missense 10/15 - 1
7-150646027-C-A c.2509G>T p.D837Y Missense 10/15 - 1
7-150646027-C-G c.2509G>C p.D837H Missense 10/15 - 1
7-150646027-C-T c.2509G>A p.D837N Missense 10/15 - 1
7-150646032-C-G c.2504G>C p.R835P Missense 10/15 - 1
7-150646032-C-T c.2504G>A p.R835Q Missense 10/15 - 1
7-150646033-CG-C c.2503del p.R835Gfs*33 Frameshift 10/15 - 1
7-150646033-G-A c.2503C>T p.R835W Missense 10/15 - 4
7-150646050-TC-CG c.2485_2486delinsCG p.D829R Missense 10/15 - 1
7-150646053-C-G c.2483G>C p.C828S Missense 10/15 - 1
7-150646054-A-T c.2482T>A p.C828S Missense 10/15 - 1
7-150646059-G-A c.2477C>T p.T826I Missense 10/15 - 1
7-150646069-G-A c.2467C>T p.R823W Missense 10/15 - 8
7-150646070-CAC-GAT c.2464_2466delinsATC p.V822I Missense 10/15 - 1
7-150646072-C-A c.2464G>T p.V822L Missense 10/15 - 1
7-150646072-C-G c.2464G>C p.V822L Missense 10/15 - 1
7-150646072-C-T c.2464G>A p.V822M Missense 10/15 - 12
7-150646074-TC-CG c.2461_2462delinsCG p.D821R Missense 10/15 - 1
7-150646077-C-T c.2459G>A p.G820E Missense 10/15 - 1
7-150646078-C-G c.2458G>C p.G820R Missense 10/15 - 1
7-150646078-C-T c.2458G>A p.G820R Missense 10/15 - 1
7-150646079-G-C c.2457C>G p.N819K Missense 10/15 - 1
7-150646079-G-T c.2457C>A p.N819K Missense 10/15 - 1
7-150646083-G-A c.2453C>T p.S818L Missense 10/15 - 7
7-150646083-G-C c.2453C>G p.S818W Missense 10/15 - 1
7-150646084-A-G c.2452T>C p.S818P Missense 10/15 - 2
7-150646089-C-A c.2447G>T p.G816V Missense 10/15 - 3
7-150646092-G-A c.2444C>T p.P815L Missense 10/15 - 1
7-150646116-TC-CT c.2419_2420delinsAG p.E807R Missense 10/15 - 2
7-150646117-C-A c.2419G>T p.E807* Nonsense 10/15 - 1
7-150646117-C-T c.2419G>A p.E807K Missense 10/15 - 1
7-150646119-C-T c.2417G>A p.G806E Missense 10/15 - 1
7-150646122-A-C c.2414T>G p.F805C Missense 10/15 - 14
7-150646122-A-G c.2414T>C p.F805S Missense 10/15 - 1
7-150646127-TGTC-T c.2407_2409del p.D803del InFrameDeletion 10/15 - 1
7-150646128-TC-CG c.2407_2408delinsCG p.D803R Missense 10/15 - 1
7-150646129-C-A c.2407G>T p.D803Y Missense 10/15 - 1
7-150646129-C-T c.2407G>A p.D803N Missense 10/15 - 1
7-150646137-C-G c.2399G>C p.G800A Missense 10/15 - 1
7-150646137-C-T c.2399G>A p.G800E Missense 10/15 - 1
7-150646655-G-A c.2399-518C>T - IntronicSNV - 9/14 1
7-150646928-G-A c.2398+328C>T - IntronicSNV - 9/14 1
7-150646928-G-T c.2398+328C>A - IntronicSNV - 9/14 1
7-150647022-G-A c.2398+234C>T - IntronicSNV - 9/14 2
7-150647022-G-T c.2398+234C>A - IntronicSNV - 9/14 2
7-150647078-G-A c.2398+178C>T - IntronicSNV - 9/14 2
7-150647078-G-C c.2398+178C>G - IntronicSNV - 9/14 2
7-150647138-C-T c.2398+118G>A - IntronicSNV - 9/14 1
7-150647150-AG-A c.2398+105del - IntronicDeletion - 9/14 1
7-150647158-C-T c.2398+98G>A - IntronicSNV - 9/14 1
7-150647256-C-A c.2398G>T p.G800W Missense 9/15 - 2
7-150647267-A-C c.2387T>G p.V796G Missense 9/15 - 2
7-150647269-GAC-CCA c.2383_2385delinsTGG p.V795W Missense 9/15 - 1
7-150647271-C-T c.2383G>A p.V795I Missense 9/15 - 1
7-150647283-G-A c.2371C>T p.R791W Missense 9/15 - 3
7-150647290-C-A c.2364G>T p.E788D Missense 9/15 - 2
7-150647290-C-G c.2364G>C p.E788D Missense 9/15 - 2
7-150647291-TC-CT c.2362_2363delinsAG p.E788R Missense 9/15 - 1
7-150647291-T-G c.2363A>C p.E788A Missense 9/15 - 1
7-150647292-C-T c.2362G>A p.E788K Missense 9/15 - 4
7-150647293-G-A c.2361C>T p.I787= Synonymous 9/15 - 1
7-150647293-G-T c.2361C>A p.I787= Synonymous 9/15 - 1
7-150647300-C-A c.2354G>T p.G785V Missense 9/15 - 3
7-150647300-C-G c.2354G>C p.G785A Missense 9/15 - 1
7-150647300-C-T c.2354G>A p.G785D Missense 9/15 - 1
7-150647304-G-A c.2350C>T p.R784W Missense 9/15 - 13
7-150647304-G-C c.2350C>G p.R784G Missense 9/15 - 6
7-150647307-A-G c.2347T>C p.S783P Missense 9/15 - 1
7-150647333-TC-CG c.2320_2321delinsCG p.D774R Missense 9/15 - 1
7-150647334-C-A c.2320G>T p.D774Y Missense 9/15 - 2
7-150647342-T-C c.2312A>G p.H771R Missense 9/15 - 1
7-150647345-A-G c.2309T>C p.V770A Missense 9/15 - 1
7-150647349-G-C c.2305C>G p.L769V Missense 9/15 - 1
7-150647355-C-A c.2299G>T p.D767Y Missense 9/15 - 2
7-150647379-T-C c.2275A>G p.K759E Missense 9/15 - 1
7-150647383-C-A c.2271G>T p.K757N Missense 9/15 - 1
7-150647383-C-G c.2271G>C p.K757N Missense 9/15 - 1
7-150647386-C-T c.2268G>A p.M756I Missense 9/15 - 1
7-150647388-T-C c.2266A>G p.M756V Missense 9/15 - 4
7-150647397-C-A c.2257G>T p.A753S Missense 9/15 - 2
7-150647399-C-G c.2255G>C p.R752P Missense 9/15 - 2
7-150647399-C-T c.2255G>A p.R752Q Missense 9/15 - 5
7-150647400-G-A c.2254C>T p.R752W Missense 9/15 - 24
7-150647405-C-G c.2249G>C p.C750S Missense 9/15 - 1
7-150647406-A-T c.2248T>A p.C750S Missense 9/15 - 1
7-150647408-C-A c.2246G>T p.G749V Missense 9/15 - 1
7-150647408-C-G c.2246G>C p.G749A Missense 9/15 - 2
7-150647407-GC-G c.2246del p.G749Afs*8 Frameshift 9/15 - 1
7-150647414-G-C c.2240C>G p.T747S Missense 9/15 - 1
7-150647415-T-A c.2239A>T p.T747S Missense 9/15 - 1
7-150647423-C-G c.2231G>C p.R744P Missense 9/15 - 2
7-150647423-CG-GT c.2230_2231delinsAC p.R744T Missense 9/15 - 1
7-150647424-G-A c.2230C>T p.R744* Nonsense 9/15 - 9
7-150647424-G-C c.2230C>G p.R744G Missense 9/15 - 1
7-150647424-G-T c.2230C>A p.R744= Synonymous 9/15 - 1
7-150647430-G-C c.2224C>G p.P742A Missense 9/15 - 1
7-150647432-TT-GG c.2221_2222delinsCC p.K741P Missense 9/15 - 1
7-150647435-C-G c.2219G>C p.C740S Missense 9/15 - 1
7-150647436-A-T c.2218T>A p.C740S Missense 9/15 - 1
7-150647442-G-A c.2212C>T p.Q738* Nonsense 9/15 - 1
7-150647450-G-A c.2204C>T p.S735L Missense 9/15 - 1
7-150647451-A-C c.2203T>G p.S735A Missense 9/15 - 1
7-150647454-G-A c.2200C>T p.R734C Missense 9/15 - 1
7-150647454-G-T c.2200C>A p.R734S Missense 9/15 - 1
7-150647457-T-G c.2197A>C p.N733H Missense 9/15 - 1
7-150647468-C-T c.2186G>A p.C729Y Missense 9/15 - 1
7-150647468-C-G c.2186G>C p.C729S Missense 9/15 - 1
7-150647469-A-T c.2185T>A p.C729S Missense 9/15 - 1
7-150647472-T-A c.2182A>T p.I728F Missense 9/15 - 2
7-150647474-TC-CG c.2179_2180delinsCG p.D727R Missense 9/15 - 1
7-150647480-TG-GT c.2173_2174delinsAC p.Q725T Missense 9/15 - 1
7-150647481-G-A c.2173C>T p.Q725* Nonsense 9/15 - 3
7-150647486-C-T c.2168G>A p.C723Y Missense 9/15 - 1
7-150647486-C-G c.2168G>C p.C723S Missense 9/15 - 3
7-150647487-A-G c.2167T>C p.C723R Missense 9/15 - 2
7-150647487-A-T c.2167T>A p.C723S Missense 9/15 - 3
7-150647490-C-A c.2164G>T p.E722* Nonsense 9/15 - 1
7-150647492-G-A c.2162C>T p.P721L Missense 9/15 - 1
7-150647492-G-C c.2162C>G p.P721R Missense 9/15 - 1
7-150647506-C-T c.2148G>A p.V716= Synonymous 9/15 - 1
7-150647508-C-T c.2146G>A p.V716M Missense 9/15 - 1
7-150647569-T-C c.2146-61A>G - IntronicSNV - 8/14 1
7-150647969-C-T c.2145+40G>A - IntronicSNV - 8/14 7
7-150648009-C-G c.2145G>C p.A715= Synonymous 8/15 - 1
7-150648010-G-A c.2144C>T p.A715V Missense 8/15 - 2
7-150648020-C-T c.2134G>A p.D712N Missense 8/15 - 1
7-150648023-T-C c.2131A>G p.I711V Missense 8/15 - 4
7-150648035-A-G c.2119T>C p.Y707H Missense 8/15 - 1
7-150648037-G-A c.2117C>T p.S706F Missense 8/15 - 2
7-150648037-G-C c.2117C>G p.S706C Missense 8/15 - 2
7-150648061-TC-CT c.2092_2093delinsAG p.E698R Missense 8/15 - 1
7-150648061-T-G c.2093A>C p.E698A Missense 8/15 - 1
7-150648062-C-A c.2092G>T p.E698* Nonsense 8/15 - 4
7-150648064-A-T c.2090T>A p.L697H Missense 8/15 - 1
7-150648067-C-G c.2087G>C p.R696P Missense 8/15 - 1
7-150648073-C-T c.2081G>A p.R694H Missense 8/15 - 1
7-150648076-A-G c.2078T>C p.L693P Missense 8/15 - 1
7-150648092-G-A c.2062C>T p.Q688* Nonsense 8/15 - 1
7-150648095-G-A c.2059C>T p.H687Y Missense 8/15 - 3
7-150648100-C-G c.2054G>C p.R685P Missense 8/15 - 4
7-150648100-C-T c.2054G>A p.R685H Missense 8/15 - 1
7-150648112-CG-TT c.2041_2042delinsAA p.R681K Missense 8/15 - 1
7-150648115-AC-A c.2038del p.V680Cfs*34 Frameshift 8/15 - 1
7-150648121-A-G c.2033T>C p.L678P Missense 8/15 - 1
7-150648131-T-C c.2023A>G p.T675A Missense 8/15 - 1
7-150648134-G-T c.2020C>A p.H674N Missense 8/15 - 1
7-150648145-G-A c.2009C>T p.T670I Missense 8/15 - 1
7-150648151-G-A c.2003C>T p.S668L Missense 8/15 - 1
7-150648153-G-C c.2001C>G p.Y667* Nonsense 8/15 - 1
7-150648153-G-T c.2001C>A p.Y667* Nonsense 8/15 - 1
7-150648154-TA-GG c.1999_2000delinsCC p.Y667P Missense 8/15 - 1
7-150648156-CAG-ACA c.1996_1998delinsTGT p.L666C Missense 8/15 - 2
7-150648157-A-G c.1997T>C p.L666P Missense 8/15 - 1
7-150648157-AG-GC c.1996_1997delinsGC p.L666A Missense 8/15 - 3
7-150648159-CCG-GTC c.1993_1995delinsGAC p.R665D Missense 8/15 - 2
7-150648160-C-G c.1994G>C p.R665P Missense 8/15 - 1
7-150648160-CG-GC c.1993_1994delinsGC p.R665A Missense 8/15 - 1
7-150648160-CG-TT c.1993_1994delinsAA p.R665K Missense 8/15 - 1
7-150648160-C-T c.1994G>A p.R665Q Missense 8/15 - 1
7-150648163-T-G c.1991A>C p.Q664P Missense 8/15 - 2
7-150648163-TG-GC c.1990_1991delinsGC p.Q664A Missense 8/15 - 1
7-150648166-AT-GG c.1987_1988delinsCC p.I663P Missense 8/15 - 3
7-150648169-A-G c.1985T>C p.I662T Missense 8/15 - 2
7-150648169-AT-GC c.1984_1985delinsGC p.I662A Missense 8/15 - 4
7-150648169-AT-GG c.1984_1985delinsCC p.I662P Missense 8/15 - 1
7-150648171-G-A c.1983C>T p.A661= Synonymous 8/15 - 1
7-150648171-G-C c.1983C>G p.A661= Synonymous 8/15 - 1
7-150648171-G-T c.1983C>A p.A661= Synonymous 8/15 - 1
7-150648172-G-A c.1982C>T p.A661V Missense 8/15 - 1
7-150648172-GC-CA c.1981_1982delinsTG p.A661C Missense 8/15 - 1
7-150648173-C-G c.1981G>C p.A661P Missense 8/15 - 1
7-150648175-G-A c.1979C>T p.S660L Missense 8/15 - 2
7-150648176-A-C c.1978T>G p.S660A Missense 8/15 - 1
7-150648176-A-G c.1978T>C p.S660P Missense 8/15 - 1
7-150648178-AC-GG c.1975_1976delinsCC p.V659P Missense 8/15 - 1
7-150648178-A-G c.1976T>C p.V659A Missense 8/15 - 6
7-150648180-GTT-TTG c.1972_1974delinsCAA p.N658Q Missense 8/15 - 1
7-150648181-TT-GC c.1972_1973delinsGC p.N658A Missense 8/15 - 4
7-150648181-TT-GG c.1972_1973delinsCC p.N658P Missense 8/15 - 1
7-150648184-CC-GG c.1969_1970inv p.G657P Missense 8/15 - 1
7-150648185-C-A c.1969G>T p.G657C Missense 8/15 - 1
7-150648185-C-G c.1969G>C p.G657R Missense 8/15 - 2
7-150648185-C-T c.1969G>A p.G657S Missense 8/15 - 1
7-150648186-GAA-CAT c.1966_1968delinsATG p.F656M Missense 8/15 - 4
7-150648186-GA-CC c.1967_1968delinsGG p.F656W Missense 8/15 - 2
7-150648186-GA-TT c.1967_1968delinsAA p.F656* Nonsense 8/15 - 2
7-150648187-AA-GC c.1966_1967delinsGC p.F656A Missense 8/15 - 29
7-150648187-AA-GG c.1966_1967delinsCC p.F656P Missense 8/15 - 1
7-150648187-AA-GT c.1966_1967delinsAC p.F656T Missense 8/15 - 11
7-150648187-A-C c.1967T>G p.F656C Missense 8/15 - 16
7-150648186-G-C c.1968C>G p.F656L Missense 8/15 - 1
7-150648186-G-T c.1968C>A p.F656L Missense 8/15 - 1
7-150648188-A-C c.1966T>G p.F656V Missense 8/15 - 8
7-150648188-A-G c.1966T>C p.F656L Missense 8/15 - 1
7-150648188-A-T c.1966T>A p.F656I Missense 8/15 - 2
7-150648190-AT-GC c.1963_1964delinsGC p.I655A Missense 8/15 - 2
7-150648190-AT-GG c.1963_1964delinsCC p.I655P Missense 8/15 - 1
7-150648191-T-A c.1963A>T p.I655F Missense 8/15 - 2
7-150648192-G-A c.1962C>T p.S654= Synonymous 8/15 - 1
7-150648193-CT-GC c.1960_1961delinsGC p.S654A Missense 8/15 - 1
7-150648194-T-A c.1960A>T p.S654C Missense 8/15 - 1
7-150648194-T-C c.1960A>G p.S654G Missense 8/15 - 2
7-150648195-A-C c.1959T>G p.A653= Synonymous 8/15 - 1
7-150648195-A-G c.1959T>C p.A653= Synonymous 8/15 - 1
7-150648195-AGC-CAT c.1957_1959delinsATG p.A653M Missense 8/15 - 1
7-150648195-AGC-CCA c.1957_1959delinsTGG p.A653W Missense 8/15 - 1
7-150648195-AGC-CTT c.1957_1959delinsAAG p.A653K Missense 8/15 - 1
7-150648195-AG-CT c.1958_1959inv p.A653E Missense 8/15 - 1
7-150648195-A-T c.1959T>A p.A653= Synonymous 8/15 - 1
7-150648196-G-A c.1958C>T p.A653V Missense 8/15 - 2
7-150648196-G-C c.1958C>G p.A653G Missense 8/15 - 2
7-150648196-GC-AT c.1957_1958delinsAT p.A653I Missense 8/15 - 2
7-150648196-GC-CA c.1957_1958delinsTG p.A653C Missense 8/15 - 2
7-150648196-GC-CG c.1957_1958delinsCG p.A653R Missense 8/15 - 1
7-150648196-GC-TA c.1957_1958delinsTA p.A653Y Missense 8/15 - 1
7-150648196-G-T c.1958C>A p.A653D Missense 8/15 - 1
7-150648197-C-A c.1957G>T p.A653S Missense 8/15 - 1
7-150648197-C-T c.1957G>A p.A653T Missense 8/15 - 1
7-150648198-A-C c.1956T>G p.Y652* Nonsense 8/15 - 9
7-150648198-A-G c.1956T>C p.Y652= Synonymous 8/15 - 10
7-150648198-A-T c.1956T>A p.Y652* Nonsense 8/15 - 9
7-150648198-ATA-GTG c.1954_1956delinsCAC p.Y652H Missense 8/15 - 1
7-150648198-AT-CC c.1955_1956delinsGG p.Y652W Missense 8/15 - 3
7-150648198-CA-C c.1956del p.Y652* Frameshift 8/15 - 1
7-150648199-T-A c.1955A>T p.Y652F Missense 8/15 - 5
7-150648199-TA-GC c.1954_1955delinsGC p.Y652A Missense 8/15 - 47
7-150648199-TA-GT c.1954_1955delinsAC p.Y652T Missense 8/15 - 1
7-150648199-T-C c.1955A>G p.Y652C Missense 8/15 - 2
7-150648199-T-G c.1955A>C p.Y652S Missense 8/15 - 1
7-150648201-CAT-ATA c.1951_1953delinsTAT p.M651Y Missense 8/15 - 2
7-150648202-A-C c.1952T>G p.M651R Missense 8/15 - 2
7-150648202-A-G c.1952T>C p.M651T Missense 8/15 - 4
7-150648202-AT-GC c.1951_1952delinsGC p.M651A Missense 8/15 - 2
7-150648202-AT-TA c.1951_1952delinsTA p.M651* Nonsense 8/15 - 1
7-150648205-AG-GC c.1948_1949delinsGC p.L650A Missense 8/15 - 2
7-150648536-A-G c.1945T>C p.S649P Missense 7/15 - 1
7-150648538-C-G c.1943G>C p.G648A Missense 7/15 - 11
7-150648539-C-T c.1942G>A p.G648S Missense 7/15 - 3
7-150648543-GAG-CTC c.1936_1938inv p.L646E Missense 7/15 - 4
7-150648544-AG-CT c.1936_1937inv p.L646S Missense 7/15 - 1
7-150648544-AG-GC c.1936_1937delinsGC p.L646A Missense 7/15 - 4
7-150648544-AG-TT c.1936_1937delinsAA p.L646N Missense 7/15 - 1
7-150648545-AG-A c.1936del p.L646Sfs*68 Frameshift 7/15 - 1
7-150648546-C-A c.1935G>T p.M645I Missense 7/15 - 1
7-150648546-CAT-ACA c.1933_1935delinsTGT p.M645C Missense 7/15 - 5
7-150648546-C-G c.1935G>C p.M645I Missense 7/15 - 1
7-150648546-C-T c.1935G>A p.M645I Missense 7/15 - 1
7-150648548-T-A c.1933A>T p.M645L Missense 7/15 - 1
7-150648548-T-C c.1933A>G p.M645V Missense 7/15 - 1
7-150648548-T-G c.1933A>C p.M645L Missense 7/15 - 1
7-150648550-A-G c.1931T>C p.V644A Missense 7/15 - 1
7-150648551-C-A c.1930G>T p.V644F Missense 7/15 - 3
7-150648551-C-G c.1930G>C p.V644L Missense 7/15 - 3
7-150648553-CA-GC c.1927_1928delinsGC p.C643A Missense 7/15 - 3
7-150648555-G-C c.1926C>G p.I642M Missense 7/15 - 1
7-150648556-A-C c.1925T>G p.I642S Missense 7/15 - 1
7-150648556-A-G c.1925T>C p.I642T Missense 7/15 - 1
7-150648557-T-C c.1924A>G p.I642V Missense 7/15 - 1
7-150648559-G-A c.1922C>T p.S641F Missense 7/15 - 1
7-150648559-G-C c.1922C>G p.S641C Missense 7/15 - 2
7-150648560-A-C c.1921T>G p.S641A Missense 7/15 - 6
7-150648559-GAGA-G c.1919_1921del p.F640del InFrameDeletion 7/15 - 1
7-150648561-G-C c.1920C>G p.F640L Missense 7/15 - 3
7-150648561-G-T c.1920C>A p.F640L Missense 7/15 - 3
7-150648563-A-C c.1918T>G p.F640V Missense 7/15 - 5
7-150648563-A-G c.1918T>C p.F640L Missense 7/15 - 2
7-150648565-AT-GC c.1915_1916delinsGC p.I639A Missense 7/15 - 2
7-150648567-C-A c.1914G>T p.K638N Missense 7/15 - 1
7-150648567-C-G c.1914G>C p.K638N Missense 7/15 - 1
7-150648567-CTT-ACA c.1912_1914delinsTGT p.K638C Missense 7/15 - 2
7-150648565-ATCT-A c.1913_1915del p.K638del InFrameDeletion 7/15 - 2
7-150648569-T-C c.1912A>G p.K638E Missense 7/15 - 2
7-150648570-C-A c.1911G>T p.E637D Missense 7/15 - 1
7-150648570-C-G c.1911G>C p.E637D Missense 7/15 - 1
7-150648570-CTC-ACA c.1909_1911delinsTGT p.E637C Missense 7/15 - 1
7-150648571-T-C c.1910A>G p.E637G Missense 7/15 - 1
7-150648571-TC-CT c.1909_1910delinsAG p.E637R Missense 7/15 - 1
7-150648571-T-G c.1910A>C p.E637A Missense 7/15 - 1
7-150648572-C-G c.1909G>C p.E637Q Missense 7/15 - 1
7-150648572-C-T c.1909G>A p.E637K Missense 7/15 - 15
7-150648573-TG-AC c.1907_1908delinsGT p.S636C Missense 7/15 - 1
7-150648575-A-C c.1906T>G p.S636A Missense 7/15 - 1
7-150648576-G-C c.1905C>G p.N635K Missense 7/15 - 1
7-150648576-G-T c.1905C>A p.N635K Missense 7/15 - 1
7-150648577-T-A c.1904A>T p.N635I Missense 7/15 - 1
7-150648577-TT-CA c.1903_1904delinsTG p.N635C Missense 7/15 - 1
7-150648578-T-C c.1903A>G p.N635D Missense 7/15 - 1
7-150648580-G-A c.1901C>T p.T634I Missense 7/15 - 3
7-150648580-G-C c.1901C>G p.T634S Missense 7/15 - 1
7-150648580-GT-CA c.1900_1901delinsTG p.T634C Missense 7/15 - 1
7-150648581-T-A c.1900A>T p.T634S Missense 7/15 - 1
7-150648581-T-C c.1900A>G p.T634A Missense 7/15 - 2
7-150648582-G-C c.1899C>G p.N633K Missense 7/15 - 1
7-150648582-G-T c.1899C>A p.N633K Missense 7/15 - 1
7-150648583-T-A c.1898A>T p.N633I Missense 7/15 - 1
7-150648583-T-C c.1898A>G p.N633S Missense 7/15 - 9
7-150648583-TT-CA c.1897_1898delinsTG p.N633C Missense 7/15 - 2
7-150648584-T-C c.1897A>G p.N633D Missense 7/15 - 1
7-150648586-GG-CA c.1894_1895delinsTG p.P632C Missense 7/15 - 1
7-150648587-G-A c.1894C>T p.P632S Missense 7/15 - 1
7-150648587-G-C c.1894C>G p.P632A Missense 7/15 - 1
7-150648588-AGA-CTC c.1891_1893delinsGAG p.S631E Missense 7/15 - 2
7-150648588-AGA-CTT c.1891_1893delinsAAG p.S631K Missense 7/15 - 2
7-150648589-G-C c.1892C>G p.S631C Missense 7/15 - 14
7-150648590-A-C c.1891T>G p.S631A Missense 7/15 - 58
7-150648590-A-G c.1891T>C p.S631P Missense 7/15 - 1
7-150648592-A-G c.1889T>C p.V630A Missense 7/15 - 3
7-150648593-C-G c.1888G>C p.V630L Missense 7/15 - 3
7-150648593-C-T c.1888G>A p.V630I Missense 7/15 - 1
7-150648594-G-C c.1887C>G p.N629K Missense 7/15 - 1
7-150648594-G-T c.1887C>A p.N629K Missense 7/15 - 1
7-150648595-T-A c.1886A>T p.N629I Missense 7/15 - 1
7-150648595-T-C c.1886A>G p.N629S Missense 7/15 - 6
7-150648595-T-G c.1886A>C p.N629T Missense 7/15 - 1
7-150648595-TT-GC c.1885_1886delinsGC p.N629A Missense 7/15 - 1
7-150648596-T-C c.1885A>G p.N629D Missense 7/15 - 20
7-150648596-TGCC-T c.1882_1884del p.G628del InFrameDeletion 7/15 - 1
7-150648598-C-G c.1883G>C p.G628A Missense 7/15 - 1
7-150648598-C-T c.1883G>A p.G628D Missense 7/15 - 1
7-150648599-C-A c.1882G>T p.G628C Missense 7/15 - 22
7-150648599-C-T c.1882G>A p.G628S Missense 7/15 - 69
7-150648601-AA-GC c.1879_1880delinsGC p.F627A Missense 7/15 - 2
7-150648601-A-T c.1880T>A p.F627Y Missense 7/15 - 7
7-150648600-G-C c.1881C>G p.F627L Missense 7/15 - 4
7-150648600-G-T c.1881C>A p.F627L Missense 7/15 - 4
7-150648602-A-G c.1879T>C p.F627L Missense 7/15 - 4
7-150648602-A-T c.1879T>A p.F627I Missense 7/15 - 1
7-150648604-C-A c.1877G>T p.G626V Missense 7/15 - 3
7-150648604-C-G c.1877G>C p.G626A Missense 7/15 - 5
7-150648604-C-T c.1877G>A p.G626D Missense 7/15 - 2
7-150648605-C-T c.1876G>A p.G626S Missense 7/15 - 2
7-150648606-CAC-AAA c.1873_1875delinsTTT p.V625F Missense 7/15 - 1
7-150648607-A-G c.1874T>C p.V625A Missense 7/15 - 11
7-150648607-A-T c.1874T>A p.V625E Missense 7/15 - 2
7-150648609-A-C c.1872T>G p.S624R Missense 7/15 - 1
7-150648609-A-T c.1872T>A p.S624R Missense 7/15 - 1
7-150648611-T-G c.1870A>C p.S624R Missense 7/15 - 1
7-150648610-C-G c.1871G>C p.S624T Missense 7/15 - 5
7-150648610-CT-GC c.1870_1871delinsGC p.S624A Missense 7/15 - 20
7-150648611-T-A c.1870A>T p.S624C Missense 7/15 - 1
7-150648613-G-A c.1868C>T p.T623I Missense 7/15 - 2
7-150648614-T-C c.1867A>G p.T623A Missense 7/15 - 14
7-150648616-AG-CA c.1864_1865delinsTG p.L622C Missense 7/15 - 7
7-150648616-AG-GC c.1864_1865delinsGC p.L622A Missense 7/15 - 1
7-150648617-G-A c.1864C>T p.L622F Missense 7/15 - 1
7-150648617-G-C c.1864C>G p.L622V Missense 7/15 - 1
7-150648618-G-C c.1863C>G p.S621R Missense 7/15 - 3
7-150648618-G-T c.1863C>A p.S621R Missense 7/15 - 3
7-150648620-T-G c.1861A>C p.S621R Missense 7/15 - 4
7-150648619-C-A c.1862G>T p.S621I Missense 7/15 - 1
7-150648619-C-T c.1862G>A p.S621N Missense 7/15 - 2
7-150648619-CT-GC c.1861_1862delinsGC p.S621A Missense 7/15 - 1
7-150648622-C-G c.1859G>C p.S620T Missense 7/15 - 38
7-150648622-C-T c.1859G>A p.S620N Missense 7/15 - 1
7-150648622-CT-GC c.1858_1859delinsGC p.S620A Missense 7/15 - 1
7-150648623-T-A c.1858A>T p.S620C Missense 7/15 - 1
7-150648623-T-C c.1858A>G p.S620G Missense 7/15 - 2
7-150648625-AA-GC c.1855_1856delinsGC p.F619A Missense 7/15 - 6
7-150648625-AA-GT c.1855_1856delinsAC p.F619T Missense 7/15 - 1
7-150648625-A-T c.1856T>A p.F619Y Missense 7/15 - 1
7-150648626-A-C c.1855T>G p.F619V Missense 7/15 - 1
7-150648628-G-A c.1853C>T p.T618I Missense 7/15 - 24
7-150648628-G-C c.1853C>G p.T618S Missense 7/15 - 4
7-150648628-GT-AC c.1852_1853inv p.T618V Missense 7/15 - 2
7-150648628-GT-AG c.1852_1853delinsCT p.T618L Missense 7/15 - 1
7-150648628-GT-CA c.1852_1853delinsTG p.T618C Missense 7/15 - 1
7-150648629-T-A c.1852A>T p.T618S Missense 7/15 - 4
7-150648629-T-C c.1852A>G p.T618A Missense 7/15 - 7
7-150648631-AA-GC c.1849_1850delinsGC p.F617A Missense 7/15 - 1
7-150648630-G-C c.1851C>G p.F617L Missense 7/15 - 2
7-150648630-G-T c.1851C>A p.F617L Missense 7/15 - 2
7-150648632-A-C c.1849T>G p.F617V Missense 7/15 - 1
7-150648632-A-G c.1849T>C p.F617L Missense 7/15 - 3
7-150648634-TA-GC c.1846_1847delinsGC p.Y616A Missense 7/15 - 1
7-150648634-T-C c.1847A>G p.Y616C Missense 7/15 - 6
7-150648636-GAG-CAT c.1843_1845delinsATG p.L615M Missense 7/15 - 1
7-150648638-G-A c.1843C>T p.L615F Missense 7/15 - 2
7-150648638-G-C c.1843C>G p.L615V Missense 7/15 - 3
7-150648640-G-A c.1841C>T p.A614V Missense 7/15 - 57
7-150648642-CGT-ACA c.1837_1839delinsTGT p.T613C Missense 7/15 - 4
7-150648643-G-A c.1838C>T p.T613M Missense 7/15 - 17
7-150648643-G-T c.1838C>A p.T613K Missense 7/15 - 3
7-150648644-T-C c.1837A>G p.T613A Missense 7/15 - 3
7-150648645-CAC-ACA c.1834_1836delinsTGT p.V612C Missense 7/15 - 1
7-150648647-C-A c.1834G>T p.V612L Missense 7/15 - 5
7-150648647-C-G c.1834G>C p.V612L Missense 7/15 - 5
7-150648647-C-T c.1834G>A p.V612M Missense 7/15 - 1
7-150648649-TA-GC c.1831_1832delinsGC p.Y611A Missense 7/15 - 1
7-150648649-T-C c.1832A>G p.Y611C Missense 7/15 - 1
7-150648650-A-C c.1831T>G p.Y611D Missense 7/15 - 2
7-150648650-A-G c.1831T>C p.Y611H Missense 7/15 - 11
7-150648651-C-A c.1830G>T p.K610N Missense 7/15 - 1
7-150648651-C-G c.1830G>C p.K610N Missense 7/15 - 1
7-150648651-CTT-ACA c.1828_1830delinsTGT p.K610C Missense 7/15 - 2
7-150648655-T-C c.1826A>G p.D609G Missense 7/15 - 1
7-150648655-TC-CA c.1825_1826delinsTG p.D609C Missense 7/15 - 2
7-150648655-T-G c.1826A>C p.D609A Missense 7/15 - 2
7-150648656-C-A c.1825G>T p.D609Y Missense 7/15 - 1
7-150648656-C-G c.1825G>C p.D609H Missense 7/15 - 1
7-150648656-C-T c.1825G>A p.D609N Missense 7/15 - 3
7-150648657-CTT-ACA c.1822_1824delinsTGT p.K608C Missense 7/15 - 2
7-150648661-AT-CA c.1819_1820delinsTG p.I607C Missense 7/15 - 1
7-150648664-G-A c.1817C>T p.S606F Missense 7/15 - 1
7-150648664-G-C c.1817C>G p.S606C Missense 7/15 - 1
7-150648665-A-G c.1816T>C p.S606P Missense 7/15 - 2
7-150648667-G-A c.1814C>T p.P605L Missense 7/15 - 1
7-150648667-GG-CA c.1813_1814delinsTG p.P605C Missense 7/15 - 2
7-150648668-G-A c.1813C>T p.P605S Missense 7/15 - 1
7-150648665-AG-A c.1815del p.S606Pfs*7 Frameshift 7/15 - 1
7-150648670-C-T c.1811G>A p.G604D Missense 7/15 - 2
7-150648671-C-T c.1810G>A p.G604S Missense 7/15 - 15
7-150648673-C-G c.1808G>C p.G603A Missense 7/15 - 1
7-150648673-C-T c.1808G>A p.G603D Missense 7/15 - 3
7-150648674-C-A c.1807G>T p.G603C Missense 7/15 - 1
7-150648675-CAG-ACA c.1804_1806delinsTGT p.L602C Missense 7/15 - 1
7-150648680-C-A c.1801G>T p.G601C Missense 7/15 - 1
7-150648680-C-T c.1801G>A p.G601S Missense 7/15 - 41
7-150648683-T-A c.1798A>T p.S600C Missense 7/15 - 1
7-150648685-C-G c.1796G>C p.S599T Missense 7/15 - 1
7-150648686-T-A c.1795A>T p.S599C Missense 7/15 - 2
7-150648687-GTT-TTG c.1792_1794delinsCAA p.N598Q Missense 7/15 - 3
7-150648688-TT-CA c.1792_1793delinsTG p.N598C Missense 7/15 - 1
7-150648691-T-C c.1790A>G p.Y597C Missense 7/15 - 4
7-150648694-G-A c.1787C>T p.P596L Missense 7/15 - 1
7-150648694-G-C c.1787C>G p.P596R Missense 7/15 - 3
7-150648694-GG-CA c.1786_1787delinsTG p.P596C Missense 7/15 - 3
7-150648694-G-T c.1787C>A p.P596H Missense 7/15 - 1
7-150648695-G-A c.1786C>T p.P596S Missense 7/15 - 1
7-150648695-G-C c.1786C>G p.P596A Missense 7/15 - 1
7-150648695-G-T c.1786C>A p.P596T Missense 7/15 - 1
7-150648696-T-A c.1785A>T p.K595N Missense 7/15 - 2
7-150648696-T-G c.1785A>C p.K595N Missense 7/15 - 2
7-150648696-TTT-ACA c.1783_1785delinsTGT p.K595C Missense 7/15 - 3
7-150648698-T-C c.1783A>G p.K595E Missense 7/15 - 1
7-150648700-C-T c.1781G>A p.G594D Missense 7/15 - 1
7-150648701-C-A c.1780G>T p.G594C Missense 7/15 - 2
7-150648702-TAT-ACA c.1777_1779delinsTGT p.I593C Missense 7/15 - 2
7-150648703-A-C c.1778T>G p.I593R Missense 7/15 - 8
7-150648703-A-G c.1778T>C p.I593T Missense 7/15 - 2
7-150648703-A-T c.1778T>A p.I593K Missense 7/15 - 2
7-150648704-T-C c.1777A>G p.I593V Missense 7/15 - 1
7-150648705-CTG-ACA c.1774_1776delinsTGT p.Q592C Missense 7/15 - 3
7-150648706-T-C c.1775A>G p.Q592R Missense 7/15 - 1
7-150648707-G-T c.1774C>A p.Q592K Missense 7/15 - 1
7-150648708-GTC-CTT c.1771_1773delinsAAG p.D591K Missense 7/15 - 3
7-150648708-GTC-TTG c.1771_1773delinsCAA p.D591Q Missense 7/15 - 1
7-150648709-TC-CA c.1771_1772delinsTG p.D591C Missense 7/15 - 3
7-150648709-TC-CG c.1771_1772delinsCG p.D591R Missense 7/15 - 1
7-150648709-T-G c.1772A>C p.D591A Missense 7/15 - 2
7-150648710-C-G c.1771G>C p.D591H Missense 7/15 - 1
7-150648712-C-A c.1769G>T p.G590V Missense 7/15 - 1
7-150648713-C-A c.1768G>T p.G590C Missense 7/15 - 2
7-150648714-CAG-ACA c.1765_1767delinsTGT p.L589C Missense 7/15 - 3
7-150648717-G-C c.1764C>G p.N588K Missense 7/15 - 99
7-150648717-G-T c.1764C>A p.N588K Missense 7/15 - 96
7-150648717-GTT-CTC c.1762_1764delinsGAG p.N588E Missense 7/15 - 5
7-150648718-TT-CA c.1762_1763delinsTG p.N588C Missense 7/15 - 3
7-150648719-T-C c.1762A>G p.N588D Missense 7/15 - 7
7-150648720-GTG-CTT c.1759_1761delinsAAG p.H587K Missense 7/15 - 1
7-150648721-TG-CA c.1759_1760inv p.H587C Missense 7/15 - 4
7-150648721-TG-GC c.1759_1760delinsGC p.H587A Missense 7/15 - 1
7-150648722-G-A c.1759C>T p.H587Y Missense 7/15 - 2
7-150648722-G-C c.1759C>G p.H587D Missense 7/15 - 1
7-150648722-G-T c.1759C>A p.H587N Missense 7/15 - 1
7-150648723-CAG-ACA c.1756_1758delinsTGT p.L586C Missense 7/15 - 2
7-150648724-A-G c.1757T>C p.L586P Missense 7/15 - 1
7-150648724-AG-CA c.1756_1757delinsTG p.L586W Missense 7/15 - 1
7-150648725-G-C c.1756C>G p.L586V Missense 7/15 - 1
7-150648725-G-T c.1756C>A p.L586M Missense 7/15 - 1
7-150648726-C-A c.1755G>T p.W585C Missense 7/15 - 4
7-150648726-C-G c.1755G>C p.W585C Missense 7/15 - 4
7-150648725-GC-G c.1755del p.W585Cfs*9 Frameshift 7/15 - 1
7-150648731-C-A c.1750G>T p.G584C Missense 7/15 - 4
7-150648731-C-G c.1750G>C p.G584R Missense 7/15 - 1
7-150648731-C-T c.1750G>A p.G584S Missense 7/15 - 17
7-150648733-AT-CA c.1747_1748delinsTG p.I583C Missense 7/15 - 3
7-150648734-T-C c.1747A>G p.I583V Missense 7/15 - 1
7-150648737-G-A c.1744C>T p.R582C Missense 7/15 - 8
7-150648738-TG-AC c.1742_1743delinsGT p.S581C Missense 7/15 - 1
7-150648742-TC-CA c.1738_1739delinsTG p.D580C Missense 7/15 - 1
7-150648742-T-G c.1739A>C p.D580A Missense 7/15 - 3
7-150648743-C-G c.1738G>C p.D580H Missense 7/15 - 1
7-150648743-C-T c.1738G>A p.D580N Missense 7/15 - 2
7-150648744-CAT-ACA c.1735_1737delinsTGT p.M579C Missense 7/15 - 1
7-150648747-GTG-CTT c.1732_1734delinsAAG p.H578K Missense 7/15 - 1
7-150648748-TG-CA c.1732_1733inv p.H578C Missense 7/15 - 2
7-150648748-TG-GC c.1732_1733delinsGC p.H578A Missense 7/15 - 1
7-150648749-G-C c.1732C>G p.H578D Missense 7/15 - 2
7-150648749-G-T c.1732C>A p.H578N Missense 7/15 - 1
7-150648750-TGG-ACA c.1729_1731delinsTGT p.P577C Missense 7/15 - 1
7-150648753-CTG-ACA c.1726_1728delinsTGT p.Q576C Missense 7/15 - 1
7-150648756-CTC-ACA c.1723_1725delinsTGT p.E575C Missense 7/15 - 1
7-150648757-T-C c.1724A>G p.E575G Missense 7/15 - 1
7-150648757-T-G c.1724A>C p.E575A Missense 7/15 - 3
7-150648758-C-G c.1723G>C p.E575Q Missense 7/15 - 1
7-150648758-C-T c.1723G>A p.E575K Missense 7/15 - 1
7-150648759-CAT-ACA c.1720_1722delinsTGT p.M574C Missense 7/15 - 1
7-150648760-A-C c.1721T>G p.M574R Missense 7/15 - 1
7-150648761-T-C c.1720A>G p.M574V Missense 7/15 - 1
7-150648763-TT-CA c.1717_1718delinsTG p.N573C Missense 7/15 - 2
7-150648766-C-A c.1715G>T p.G572V Missense 7/15 - 2
7-150648766-C-T c.1715G>A p.G572D Missense 7/15 - 1
7-150648767-C-A c.1714G>T p.G572C Missense 7/15 - 4
7-150648767-C-G c.1714G>C p.G572R Missense 7/15 - 13
7-150648767-C-T c.1714G>A p.G572S Missense 7/15 - 14
7-150648768-G-C c.1713C>G p.I571M Missense 7/15 - 1
7-150648769-AT-CA c.1711_1712delinsTG p.I571C Missense 7/15 - 1
7-150648770-T-A c.1711A>T p.I571F Missense 7/15 - 1
7-150648770-T-G c.1711A>C p.I571L Missense 7/15 - 3
7-150648772-G-A c.1709C>T p.A570V Missense 7/15 - 1
7-150648775-TA-GC c.1705_1706delinsGC p.Y569A Missense 7/15 - 2
7-150648775-T-C c.1706A>G p.Y569C Missense 7/15 - 2
7-150648776-A-G c.1705T>C p.Y569H Missense 7/15 - 2
7-150648777-C-A c.1704G>T p.W568C Missense 7/15 - 1
7-150648777-CC-AA c.1703_1704delinsTT p.W568F Missense 7/15 - 1
7-150648777-CCA-GAT c.1702_1704delinsATC p.W568I Missense 7/15 - 1
7-150648777-C-G c.1704G>C p.W568C Missense 7/15 - 1
7-150648778-C-A c.1703G>T p.W568L Missense 7/15 - 3
7-150648778-CA-GC c.1702_1703delinsGC p.W568A Missense 7/15 - 1
7-150648779-A-G c.1702T>C p.W568R Missense 7/15 - 1
7-150648779-A-T c.1702T>A p.W568R Missense 7/15 - 1
7-150648781-A-G c.1700T>C p.I567T Missense 7/15 - 1
7-150648781-AT-GC c.1699_1700delinsGC p.I567A Missense 7/15 - 4
7-150648784-C-A c.1697G>T p.C566F Missense 7/15 - 1
7-150648784-CA-GC c.1696_1697delinsGC p.C566A Missense 7/15 - 4
7-150648784-C-G c.1697G>C p.C566S Missense 7/15 - 1
7-150648785-A-T c.1696T>A p.C566S Missense 7/15 - 1
7-150648788-C-T c.1693G>A p.A565T Missense 7/15 - 1
7-150648789-T-A c.1692A>T p.L564= Synonymous 7/15 - 2
7-150648789-T-C c.1692A>G p.L564= Synonymous 7/15 - 4
7-150648789-T-G c.1692A>C p.L564= Synonymous 7/15 - 4
7-150648791-G-A c.1690C>T p.L564= Synonymous 7/15 - 2
7-150648790-A-G c.1691T>C p.L564P Missense 7/15 - 1
7-150648790-AG-GC c.1690_1691delinsGC p.L564A Missense 7/15 - 3
7-150648792-C-A c.1689G>T p.W563C Missense 7/15 - 1
7-150648792-C-G c.1689G>C p.W563C Missense 7/15 - 1
7-150648793-CA-GC c.1687_1688delinsGC p.W563A Missense 7/15 - 2
7-150648793-C-T c.1688G>A p.W563* Nonsense 7/15 - 2
7-150648794-A-C c.1687T>G p.W563G Missense 7/15 - 1
7-150648795-GTG-CCA c.1684_1686delinsTGG p.H562W Missense 7/15 - 2
7-150648795-GTG-CTC c.1684_1686delinsGAG p.H562E Missense 7/15 - 1
7-150648796-T-C c.1685A>G p.H562R Missense 7/15 - 2
7-150648796-T-G c.1685A>C p.H562P Missense 7/15 - 4
7-150648796-TG-GC c.1684_1685delinsGC p.H562A Missense 7/15 - 3
7-150648797-G-T c.1684C>A p.H562N Missense 7/15 - 1
7-150648799-G-A c.1682C>T p.A561V Missense 7/15 - 37
7-150648799-G-C c.1682C>G p.A561G Missense 7/15 - 1
7-150648800-C-G c.1681G>C p.A561P Missense 7/15 - 19
7-150648800-C-T c.1681G>A p.A561T Missense 7/15 - 25
7-150648801-G-A c.1680C>T p.I560= Synonymous 7/15 - 1
7-150648801-G-C c.1680C>G p.I560M Missense 7/15 - 1
7-150648802-A-G c.1679T>C p.I560T Missense 7/15 - 5
7-150648802-AT-GC c.1678_1679delinsGC p.I560A Missense 7/15 - 5
7-150648805-AG-GC c.1675_1676delinsGC p.L559A Missense 7/15 - 1
7-150648805-A-T c.1676T>A p.L559H Missense 7/15 - 1
7-150648808-G-A c.1673C>T p.A558V Missense 7/15 - 1
7-150648808-G-T c.1673C>A p.A558E Missense 7/15 - 2
7-150648809-C-G c.1672G>C p.A558P Missense 7/15 - 12
7-150648810-AA-TT c.1670_1671inv p.F557* Nonsense 7/15 - 1
7-150648811-AA-GC c.1669_1670delinsGC p.F557A Missense 7/15 - 1
7-150648810-A-C c.1671T>G p.F557L Missense 7/15 - 15
7-150648810-A-T c.1671T>A p.F557L Missense 7/15 - 15
7-150648812-A-G c.1669T>C p.F557L Missense 7/15 - 15
7-150648817-CA-GC c.1663_1664delinsGC p.C555A Missense 7/15 - 2
7-150648820-AT-GC c.1660_1661delinsGC p.M554A Missense 7/15 - 2
7-150648823-AG-GC c.1657_1658delinsGC p.L553A Missense 7/15 - 4
7-150648823-AG-TT c.1657_1658delinsAA p.L553N Missense 7/15 - 1
7-150648826-A-G c.1655T>C p.L552S Missense 7/15 - 14
7-150648828-G-C c.1653C>G p.F551L Missense 7/15 - 1
7-150648828-G-T c.1653C>A p.F551L Missense 7/15 - 1
7-150648830-A-G c.1651T>C p.F551L Missense 7/15 - 1
7-150648832-AG-GC c.1648_1649delinsGC p.L550A Missense 7/15 - 2
7-150648835-A-G c.1646T>C p.V549A Missense 7/15 - 3
7-150648838-G-A c.1643C>T p.A548V Missense 7/15 - 2
7-150648841-G-A c.1640C>T p.A547V Missense 7/15 - 3
7-150648842-C-T c.1639G>A p.A547T Missense 7/15 - 1
7-150648844-CC-AG c.1636_1637delinsCT p.G546L Missense 7/15 - 2
7-150648844-C-G c.1637G>C p.G546A Missense 7/15 - 3
7-150648845-C-A c.1636G>T p.G546C Missense 7/15 - 3
7-150648847-T-A c.1634A>T p.Y545F Missense 7/15 - 1
7-150648847-TA-GC c.1633_1634delinsGC p.Y545A Missense 7/15 - 2
7-150648847-T-C c.1634A>G p.Y545C Missense 7/15 - 1
7-150648849-CTC-ACA c.1630_1632delinsTGT p.E544C Missense 7/15 - 1
7-150648850-TC-AG c.1630_1631delinsCT p.E544L Missense 7/15 - 3
7-150648850-T-G c.1631A>C p.E544A Missense 7/15 - 3
7-150648854-A-C c.1627T>G p.S543A Missense 7/15 - 2
7-150648856-TA-GC c.1624_1625delinsGC p.Y542A Missense 7/15 - 2
7-150648856-T-C c.1625A>G p.Y542C Missense 7/15 - 4
7-150648859-CG-GC c.1621_1622delinsGC p.R541A Missense 7/15 - 4
7-150648859-C-T c.1622G>A p.R541H Missense 7/15 - 1
7-150648860-G-A c.1621C>T p.R541C Missense 7/15 - 2
7-150648861-ATC-CTT c.1618_1620delinsAAG p.D540K Missense 7/15 - 19
7-150648862-TC-CA c.1618_1619delinsTG p.D540C Missense 7/15 - 2
7-150648862-TC-CG c.1618_1619delinsCG p.D540R Missense 7/15 - 1
7-150648862-T-G c.1619A>C p.D540A Missense 7/15 - 7
7-150648863-CCAG-C c.1615_1617del p.L539del InFrameDeletion 7/15 - 1
7-150648865-AG-CA c.1615_1616delinsTG p.L539W Missense 7/15 - 1
7-150648865-AG-GC c.1615_1616delinsGC p.L539A Missense 7/15 - 1
7-150648867-CTT-ACA c.1612_1614delinsTGT p.K538C Missense 7/15 - 1
7-150648867-CTT-GTC c.1612_1614delinsGAC p.K538D Missense 7/15 - 2
7-150648868-T-C c.1613A>G p.K538R Missense 7/15 - 2
7-150648868-TT-CA c.1612_1613delinsTG p.K538W Missense 7/15 - 1
7-150648868-TT-GC c.1612_1613delinsGC p.K538A Missense 7/15 - 2
7-150648869-T-G c.1612A>C p.K538Q Missense 7/15 - 3
7-150648870-CCG-ACA c.1609_1611delinsTGT p.R537C Missense 7/15 - 1
7-150648871-CG-GC c.1609_1610delinsGC p.R537A Missense 7/15 - 2
7-150648871-CG-TT c.1609_1610delinsAA p.R537K Missense 7/15 - 1
7-150648871-C-T c.1610G>A p.R537Q Missense 7/15 - 3
7-150648872-G-A c.1609C>T p.R537W Missense 7/15 - 3
7-150648874-G-A c.1607C>T p.A536V Missense 7/15 - 1
7-150648874-GC-CA c.1606_1607delinsTG p.A536W Missense 7/15 - 1
7-150648877-AC-CA c.1603_1604delinsTG p.V535W Missense 7/15 - 1
7-150648877-AC-GA c.1603_1604delinsTC p.V535S Missense 7/15 - 2
7-150648877-A-G c.1604T>C p.V535A Missense 7/15 - 4
7-150648878-C-T c.1603G>A p.V535M Missense 7/15 - 2
7-150648879-GCG-CCA c.1600_1602delinsTGG p.R534W Missense 7/15 - 1
7-150648879-GC-TT c.1601_1602delinsAA p.R534Q Missense 7/15 - 2
7-150648880-C-A c.1601G>T p.R534L Missense 7/15 - 1
7-150648881-G-A c.1600C>T p.R534C Missense 7/15 - 14
7-150648883-AC-CA c.1597_1598delinsTG p.V533W Missense 7/15 - 1
7-150648886-A-G c.1595T>C p.L532P Missense 7/15 - 10
7-150648886-AG-CA c.1594_1595delinsTG p.L532W Missense 7/15 - 1
7-150648886-AG-GA c.1594_1595delinsTC p.L532S Missense 7/15 - 2
7-150648888-CCG-ACA c.1591_1593delinsTGT p.R531C Missense 7/15 - 2
7-150648889-CG-GC c.1591_1592delinsGC p.R531A Missense 7/15 - 2
7-150648889-C-T c.1592G>A p.R531Q Missense 7/15 - 5
7-150648890-G-A c.1591C>T p.R531W Missense 7/15 - 4
7-150648892-AG-CA c.1588_1589delinsTG p.L530W Missense 7/15 - 1
7-150648892-AG-GA c.1588_1589delinsTC p.L530S Missense 7/15 - 2
7-150648893-G-A c.1588C>T p.L530= Synonymous 7/15 - 1
7-150648894-C-A c.1587G>T p.L529= Synonymous 7/15 - 1
7-150648894-CAG-GAT c.1585_1587delinsATC p.L529I Missense 7/15 - 3
7-150648894-C-G c.1587G>C p.L529= Synonymous 7/15 - 1
7-150648894-C-T c.1587G>A p.L529= Synonymous 7/15 - 1
7-150648896-G-A c.1585C>T p.L529= Synonymous 7/15 - 1
7-150648895-AG-CA c.1585_1586delinsTG p.L529W Missense 7/15 - 1
7-150648895-AG-GA c.1585_1586delinsTC p.L529S Missense 7/15 - 2
7-150648895-AG-GC c.1585_1586delinsGC p.L529A Missense 7/15 - 2
7-150648897-CC-AT c.1583_1584delinsAT p.R528H Missense 7/15 - 1
7-150648897-CCG-ACA c.1582_1584delinsTGT p.R528C Missense 7/15 - 2
7-150648897-CCG-GTC c.1582_1584delinsGAC p.R528D Missense 7/15 - 1
7-150648898-C-G c.1583G>C p.R528P Missense 7/15 - 2
7-150648898-C-T c.1583G>A p.R528Q Missense 7/15 - 3
7-150648899-G-A c.1582C>T p.R528W Missense 7/15 - 1
7-150648901-GC-CA c.1579_1580delinsTG p.A527W Missense 7/15 - 1
7-150648903-AG-CA c.1577_1578delinsTG p.T526M Missense 7/15 - 2
7-150648903-AGT-CCA c.1576_1578delinsTGG p.T526W Missense 7/15 - 1
7-150648903-AGT-TTA c.1576_1578delinsTAA p.T526* Nonsense 7/15 - 1
7-150648904-G-C c.1577C>G p.T526S Missense 7/15 - 1
7-150648904-G-T c.1577C>A p.T526N Missense 7/15 - 1
7-150648905-T-A c.1576A>T p.T526S Missense 7/15 - 1
7-150648905-T-C c.1576A>G p.T526A Missense 7/15 - 2
7-150648906-C-A c.1575G>T p.K525N Missense 7/15 - 3
7-150648906-C-G c.1575G>C p.K525N Missense 7/15 - 3
7-150648906-CTT-ACA c.1573_1575delinsTGT p.K525C Missense 7/15 - 3
7-150648906-CTT-GTC c.1573_1575delinsGAC p.K525D Missense 7/15 - 1
7-150648907-T-C c.1574A>G p.K525R Missense 7/15 - 1
7-150648907-TT-CA c.1573_1574delinsTG p.K525W Missense 7/15 - 1
7-150648907-TT-GC c.1573_1574delinsGC p.K525A Missense 7/15 - 2
7-150648908-T-G c.1573A>C p.K525Q Missense 7/15 - 4
7-150648910-AG-CA c.1570_1571delinsTG p.L524W Missense 7/15 - 1
7-150648910-AG-GC c.1570_1571delinsGC p.L524A Missense 7/15 - 1
7-150648916-C-G c.1565G>C p.G522A Missense 7/15 - 2
7-150648917-C-G c.1564G>C p.G522R Missense 7/15 - 1
7-150648917-C-T c.1564G>A p.G522R Missense 7/15 - 1
7-150648919-AT-CA c.1561_1562delinsTG p.I521C Missense 7/15 - 4
7-150648919-AT-GC c.1561_1562delinsGC p.I521A Missense 7/15 - 2
7-150648921-CAG-ACA c.1558_1560delinsTGT p.L520C Missense 7/15 - 5
7-150648922-AG-GC c.1558_1559delinsGC p.L520A Missense 7/15 - 1
7-150648923-G-A c.1558C>T p.L520= Synonymous 7/15 - 1
7-150648986-G-C c.1558-63C>G - IntronicSNV - 6/14 1
7-150649513-CTC-ACA c.1555_1557delinsTGT p.E519C Missense 6/15 - 5
7-150649514-T-G c.1556A>C p.E519A Missense 6/15 - 4
7-150649516-CTC-ACA c.1552_1554delinsTGT p.E518C Missense 6/15 - 5
7-150649517-T-G c.1553A>C p.E518A Missense 6/15 - 4
7-150649524-C-A c.1546G>T p.G516C Missense 6/15 - 2
7-150649524-C-T c.1546G>A p.G516S Missense 6/15 - 1
7-150649527-AGCC-A c.1540_1542del p.G514del InFrameDeletion 6/15 - 1
7-150649529-C-G c.1541G>C p.G514A Missense 6/15 - 3
7-150649530-C-A c.1540G>T p.G514C Missense 6/15 - 1
7-150649531-G-A c.1539C>T p.F513= Synonymous 6/15 - 9
7-150649535-AT-GC c.1534_1535delinsGC p.I512A Missense 6/15 - 1
7-150649541-AG-GC c.1528_1529delinsGC p.L510A Missense 6/15 - 1
7-150649544-TC-CA c.1525_1526delinsTG p.D509C Missense 6/15 - 4
7-150649544-T-G c.1526A>C p.D509A Missense 6/15 - 5
7-150649545-CGAA-C c.1522_1524del p.F508del InFrameDeletion 6/15 - 3
7-150649547-AA-GC c.1522_1523delinsGC p.F508A Missense 6/15 - 1
7-150649550-G-A c.1520C>T p.P507L Missense 6/15 - 1
7-150649551-G-T c.1519C>A p.P507T Missense 6/15 - 1
7-150649556-G-A c.1514C>T p.A505V Missense 6/15 - 1
7-150649557-C-T c.1513G>A p.A505T Missense 6/15 - 1
7-150649566-T-G c.1504A>C p.M502L Missense 6/15 - 1
7-150649567-G-C c.1503C>G p.D501E Missense 6/15 - 1
7-150649567-G-T c.1503C>A p.D501E Missense 6/15 - 1
7-150649568-T-C c.1502A>G p.D501G Missense 6/15 - 1
7-150649568-TC-CA c.1501_1502delinsTG p.D501C Missense 6/15 - 1
7-150649568-T-G c.1502A>C p.D501A Missense 6/15 - 2
7-150649569-C-G c.1501G>C p.D501H Missense 6/15 - 1
7-150649569-C-T c.1501G>A p.D501N Missense 6/15 - 3
7-150649574-A-G c.1496T>C p.L499P Missense 6/15 - 2
7-150649580-C-A c.1490G>T p.W497L Missense 6/15 - 2
7-150649591-G-C c.1479C>G p.Y493* Nonsense 6/15 - 1
7-150649591-G-T c.1479C>A p.Y493* Nonsense 6/15 - 1
7-150649592-T-A c.1478A>T p.Y493F Missense 6/15 - 5
7-150649592-T-C c.1478A>G p.Y493C Missense 6/15 - 2
7-150649592-T-G c.1478A>C p.Y493S Missense 6/15 - 1
7-150649596-G-A c.1474C>T p.H492Y Missense 6/15 - 4
7-150649599-C-T c.1471G>A p.V491I Missense 6/15 - 2
7-150649602-C-G c.1468G>C p.A490P Missense 6/15 - 4
7-150649602-C-T c.1468G>A p.A490T Missense 6/15 - 8
7-150649603-G-A c.1467C>T p.I489= Synonymous 6/15 - 3
7-150649603-G-T c.1467C>A p.I489= Synonymous 6/15 - 3
7-150649605-T-A c.1465A>T p.I489F Missense 6/15 - 1
7-150649611-C-G c.1459G>C p.G487R Missense 6/15 - 1
7-150649611-C-T c.1459G>A p.G487S Missense 6/15 - 1
7-150649613-G-C c.1457C>G p.P486R Missense 6/15 - 2
7-150649626-ACCTCCTCGTTG-A c.1434_1444del p.N479Gfs*36 Frameshift 6/15 - 1
7-150649631-T-A c.1439A>T p.E480V Missense 6/15 - 1
7-150649637-G-C c.1433C>G p.A478G Missense 6/15 - 1
7-150649643-AC-CA c.1426_1427delinsTG p.V476C Missense 6/15 - 2
7-150649646-T-C c.1424A>G p.Y475C Missense 6/15 - 2
7-150649649-G-A c.1421C>T p.T474I Missense 6/15 - 8
7-150649652-G-T c.1418C>A p.T473N Missense 6/15 - 1
7-150649653-T-G c.1417A>C p.T473P Missense 6/15 - 3
7-150649662-T-C c.1408A>G p.N470D Missense 6/15 - 24
7-150649672-G-C c.1398C>G p.D466E Missense 6/15 - 1
7-150649672-G-T c.1398C>A p.D466E Missense 6/15 - 1
7-150649673-T-A c.1397A>T p.D466V Missense 6/15 - 1
7-150649673-TC-CA c.1396_1397delinsTG p.D466C Missense 6/15 - 2
7-150649673-T-G c.1397A>C p.D466A Missense 6/15 - 4
7-150649674-C-A c.1396G>T p.D466Y Missense 6/15 - 2
7-150649681-GAA-CAT c.1387_1389delinsATG p.F463M Missense 6/15 - 1
7-150649681-GA-CC c.1388_1389delinsGG p.F463W Missense 6/15 - 1
7-150649682-AA-GC c.1387_1388delinsGC p.F463A Missense 6/15 - 1
7-150649682-A-T c.1388T>A p.F463Y Missense 6/15 - 1
7-150649681-G-C c.1389C>G p.F463L Missense 6/15 - 6
7-150649681-G-T c.1389C>A p.F463L Missense 6/15 - 6
7-150649683-A-C c.1387T>G p.F463V Missense 6/15 - 1
7-150649683-A-G c.1387T>C p.F463L Missense 6/15 - 6
7-150649691-TC-CA c.1378_1379delinsTG p.D460C Missense 6/15 - 4
7-150649691-T-G c.1379A>C p.D460A Missense 6/15 - 4
7-150649692-C-A c.1378G>T p.D460Y Missense 6/15 - 1
7-150649692-C-T c.1378G>A p.D460N Missense 6/15 - 1
7-150649700-A-G c.1370T>C p.L457P Missense 6/15 - 1
7-150649703-TC-CA c.1366_1367delinsTG p.D456C Missense 6/15 - 4
7-150649703-T-G c.1367A>C p.D456A Missense 6/15 - 6
7-150649704-C-A c.1366G>T p.D456Y Missense 6/15 - 6
7-150649713-C-A c.1357G>T p.A453S Missense 6/15 - 2
7-150649715-A-C c.1355T>G p.L452R Missense 6/15 - 1
7-150649715-AG-GC c.1354_1355delinsGC p.L452A Missense 6/15 - 1
7-150649715-AG-TT c.1354_1355delinsAA p.L452K Missense 6/15 - 1
7-150649718-G-A c.1352C>T p.P451L Missense 6/15 - 2
7-150649724-CA-AC c.1345_1346delinsGT p.C449V Missense 6/15 - 2
7-150649724-CA-GC c.1345_1346delinsGC p.C449A Missense 6/15 - 1
7-150649727-GC-AG c.1342_1343delinsCT p.A448L Missense 6/15 - 1
7-150649728-C-T c.1342G>A p.A448T Missense 6/15 - 3
7-150649736-CA-AC c.1333_1334delinsGT p.C445V Missense 6/15 - 4
7-150649736-CA-GC c.1333_1334delinsGC p.C445A Missense 6/15 - 1
7-150649738-C-A c.1332G>T p.E444D Missense 6/15 - 1
7-150649738-C-G c.1332G>C p.E444D Missense 6/15 - 1
7-150649739-T-G c.1331A>C p.E444A Missense 6/15 - 1
7-150649740-C-A c.1330G>T p.E444* Nonsense 6/15 - 1
7-150649740-C-T c.1330G>A p.E444K Missense 6/15 - 3
7-150649741-G-A c.1329C>T p.T443= Synonymous 6/15 - 1
7-150649746-C-A c.1324G>T p.A442S Missense 6/15 - 1
7-150649754-C-T c.1316G>A p.G439D Missense 6/15 - 1
7-150649755-C-G c.1315G>C p.G439R Missense 6/15 - 1
7-150649757-TC-CT c.1312_1313delinsAG p.E438R Missense 6/15 - 1
7-150649757-T-G c.1313A>C p.E438A Missense 6/15 - 1
7-150649763-G-A c.1307C>T p.T436M Missense 6/15 - 3
7-150649766-TC-CT c.1303_1304delinsAG p.E435R Missense 6/15 - 1
7-150649766-T-G c.1304A>C p.E435A Missense 6/15 - 1
7-150649772-AG-GC c.1297_1298delinsGC p.L433A Missense 6/15 - 1
7-150649778-AA-GC c.1291_1292delinsGC p.F431A Missense 6/15 - 1
7-150649784-AG-A c.1286del p.A429Vfs*5 Frameshift 6/15 - 2
7-150649785-C-G c.1285G>C p.A429P Missense 6/15 - 6
7-150649785-C-T c.1285G>A p.A429T Missense 6/15 - 1
7-150649787-G-A c.1283C>T p.S428L Missense 6/15 - 7
7-150649787-G-T c.1283C>A p.S428* Nonsense 6/15 - 3
7-150649788-A-C c.1282T>G p.S428A Missense 6/15 - 1
7-150649788-A-G c.1282T>C p.S428P Missense 6/15 - 1
7-150649790-T-C c.1280A>G p.Y427C Missense 6/15 - 1
7-150649790-T-G c.1280A>C p.Y427S Missense 6/15 - 1
7-150649791-A-G c.1279T>C p.Y427H Missense 6/15 - 1
7-150649793-G-T c.1277C>A p.P426H Missense 6/15 - 1
7-150649794-G-A c.1276C>T p.P426S Missense 6/15 - 1
7-150649794-G-C c.1276C>G p.P426A Missense 6/15 - 1
7-150649802-A-G c.1268T>C p.V423A Missense 6/15 - 2
7-150649806-C-T c.1264G>A p.A422T Missense 6/15 - 14
7-150649808-G-A c.1262C>T p.T421M Missense 6/15 - 12
7-150649809-T-C c.1261A>G p.T421A Missense 6/15 - 3
7-150649811-TA-GC c.1258_1259delinsGC p.Y420A Missense 6/15 - 1
7-150649811-T-C c.1259A>G p.Y420C Missense 6/15 - 4
7-150649820-AG-GC c.1249_1250delinsGC p.L417A Missense 6/15 - 2
7-150649823-AG-GC c.1246_1247delinsGC p.L416A Missense 6/15 - 1
7-150649826-AG-GC c.1243_1244delinsGC p.L415A Missense 6/15 - 1
7-150649832-A-G c.1238T>C p.L413P Missense 6/15 - 2
7-150649834-C-T c.1236G>A p.W412* Nonsense 6/15 - 1
7-150649835-CA-GC c.1234_1235delinsGC p.W412A Missense 6/15 - 1
7-150649835-C-T c.1235G>A p.W412* Nonsense 6/15 - 1
7-150649837-GTC-CTT c.1231_1233delinsAAG p.D411K Missense 6/15 - 1
7-150649838-TC-CA c.1231_1232delinsTG p.D411C Missense 6/15 - 3
7-150649838-T-G c.1232A>C p.D411A Missense 6/15 - 2
7-150649839-C-T c.1231G>A p.D411N Missense 6/15 - 1
7-150649841-C-G c.1229G>C p.W410S Missense 6/15 - 4
7-150649845-C-A c.1225G>T p.V409L Missense 6/15 - 1
7-150649847-G-A c.1223C>T p.A408V Missense 6/15 - 1
7-150649850-TT-GC c.1219_1220delinsGC p.K407A Missense 6/15 - 1
7-150649862-TA-GC c.1207_1208delinsGC p.Y403A Missense 6/15 - 1
7-150649865-T-C c.1205A>G p.H402R Missense 6/15 - 3
7-150649865-TG-GC c.1204_1205delinsGC p.H402A Missense 6/15 - 1
7-150649865-T-TGCAG c.1201_1204dup p.H402Pfs*118 Frameshift 6/15 - 1
7-150649868-AG-GC c.1201_1202delinsGC p.L401A Missense 6/15 - 1
7-150649871-A-T c.1199T>A p.I400N Missense 6/15 - 5
7-150649876-C-T c.1194G>A p.W398* Nonsense 6/15 - 1
7-150649877-C-T c.1193G>A p.W398* Nonsense 6/15 - 1
7-150649878-A-G c.1192T>C p.W398R Missense 6/15 - 1
7-150649880-C-T c.1190G>A p.R397H Missense 6/15 - 2
7-150649890-G-T c.1180C>A p.R394S Missense 6/15 - 1
7-150649892-G-A c.1178C>T p.P393L Missense 6/15 - 1
7-150649918-GC-G c.1152del p.L385Cfs*49 Frameshift 6/15 - 1
7-150652569-G-A c.1128+1810C>T - IntronicSNV - 5/14 1
7-150652609-G-A c.1128+1770C>T - IntronicSNV - 5/14 1
7-150652610-C-T c.1128+1769G>A - IntronicSNV - 5/14 1
7-150652688-C-T c.1128+1691G>A - IntronicSNV - 5/14 1
7-150654379-C-T c.1128G>A p.Q376= Synonymous 5/15 - 1
7-150654380-T-G c.1127A>C p.Q376P Missense 5/15 - 1
7-150654380-TG-GA c.1126_1127delinsTC p.Q376S Missense 5/15 - 1
7-150654381-G-A c.1126C>T p.Q376* Nonsense 5/15 - 1
7-150654407-G-C c.1100C>G p.T367S Missense 5/15 - 1
7-150654408-T-A c.1099A>T p.T367S Missense 5/15 - 1
7-150654410-CG-TC c.1096_1097delinsGA p.R366E Missense 5/15 - 1
7-150654411-G-A c.1096C>T p.R366* Nonsense 5/15 - 5
7-150654413-T-C c.1094A>G p.E365G Missense 5/15 - 1
7-150654413-TC-CT c.1093_1094delinsAG p.E365R Missense 5/15 - 2
7-150654417-T-C c.1090A>G p.K364E Missense 5/15 - 1
7-150654423-T-C c.1084A>G p.K362E Missense 5/15 - 1
7-150654439-A-C c.1068T>G p.R356= Synonymous 5/15 - 1
7-150654439-A-G c.1068T>C p.R356= Synonymous 5/15 - 1
7-150654439-A-T c.1068T>A p.R356= Synonymous 5/15 - 1
7-150654440-C-T c.1067G>A p.R356H Missense 5/15 - 1
7-150654449-G-C c.1058C>G p.T353S Missense 5/15 - 1
7-150654450-T-A c.1057A>T p.T353S Missense 5/15 - 1
7-150654468-G-A c.1039C>T p.P347S Missense 5/15 - 9
7-150654474-C-G c.1033G>C p.G345R Missense 5/15 - 1
7-150654482-T-A c.1025A>T p.D342V Missense 5/15 - 1
7-150654506-G-A c.1001C>T p.P334L Missense 5/15 - 1
7-150654521-GT-CA c.985_986delinsTG p.T329C Missense 5/15 - 2
7-150654525-G-A c.982C>T p.R328C Missense 5/15 - 6
7-150654525-G-C c.982C>G p.R328G Missense 5/15 - 1
7-150654530-C-A c.977G>T p.R326L Missense 5/15 - 1
7-150654548-G-A c.959C>T p.S320L Missense 5/15 - 1
7-150654548-G-C c.959C>G p.S320W Missense 5/15 - 1
7-150654563-A-G c.944T>C p.L315S Missense 5/15 - 1
7-150654567-C-T c.940G>A p.G314S Missense 5/15 - 1
7-150654569-CT-GC c.937_938delinsGC p.S313A Missense 5/15 - 1
7-150654569-CT-TC c.937_938delinsGA p.S313D Missense 5/15 - 1
7-150654573-G-A c.934C>T p.R312C Missense 5/15 - 2
7-150654575-A-T c.932T>A p.L311Q Missense 5/15 - 1
7-150654579-G-A c.928C>T p.P310S Missense 5/15 - 1
7-150654584-CATG-C c.921_923del p.M308del InFrameDeletion 5/15 - 1
7-150654590-C-T c.917G>A p.G306E Missense 5/15 - 1
7-150654587-GC-G c.919del - Frameshift - 4/14 1
7-150655147-C-A c.916G>T p.G306W Missense 4/15 - 2
7-150655149-G-A c.914C>T p.T305I Missense 4/15 - 1
7-150655174-G-A c.889C>T p.P297S Missense 4/15 - 2
7-150655182-C-A c.881G>T p.G294V Missense 4/15 - 4
7-150655186-C-A c.877G>T p.A293S Missense 4/15 - 1
7-150655191-A-G c.872T>C p.M291T Missense 4/15 - 1
7-150655198-C-T c.865G>A p.E289K Missense 4/15 - 2
7-150655204-C-T c.859G>A p.D287N Missense 4/15 - 1
7-150655213-A-C c.850T>G p.S284A Missense 4/15 - 1
7-150655214-CGA-GTC c.847_849delinsGAC p.S283D Missense 4/15 - 1
7-150655216-A-C c.847T>G p.S283A Missense 4/15 - 3
7-150655220-G-GC c.842dup p.A282Rfs*50 Frameshift 4/15 - 1
7-150655228-C-T c.835G>A p.V279M Missense 4/15 - 3
7-150655244-TC-AT c.818_819delinsAT p.R273H Missense 4/15 - 1
7-150655245-C-T c.818G>A p.R273Q Missense 4/15 - 4
7-150655250-GCGCG-GGCTTTT c.809_812delinsAAAAGC p.T270Kfs*91 Frameshift 4/15 - 1
7-150655256-CCG-ACA c.805_807delinsTGT p.R269C Missense 4/15 - 1
7-150655258-G-A c.805C>T p.R269W Missense 4/15 - 1
7-150655258-G-C c.805C>G p.R269G Missense 4/15 - 1
7-150655279-C-T c.784G>A p.G262S Missense 4/15 - 1
7-150655277-GC-G c.785del p.G262Afs*98 Frameshift 4/15 - 1
7-150655280-C-G c.783G>C p.S261= Synonymous 4/15 - 1
7-150655284-G-A c.779C>T p.A260V Missense 4/15 - 1
7-150655285-C-G c.778G>C p.A260P Missense 4/15 - 1
7-150655288-C-T c.775G>A p.D259N Missense 4/15 - 2
7-150655290-G-A c.773C>T p.P258L Missense 4/15 - 1
7-150655291-G-C c.772C>G p.P258A Missense 4/15 - 1
7-150655294-T-G c.769A>C p.N257H Missense 4/15 - 2
7-150655300-T-C c.763A>G p.S255G Missense 4/15 - 1
7-150655301-G-C c.762C>G p.H254Q Missense 4/15 - 1
7-150655301-G-T c.762C>A p.H254Q Missense 4/15 - 1
7-150655308-C-CGGGGCGATGGGAGCTGGCCG c.735_754dup p.R252Pfs*115 frameshift_variant 4/15 - 1
7-150655309-G-C c.754C>G p.R252G Missense 4/15 - 1
7-150655312-G-C c.751C>G p.P251A Missense 4/15 - 1
7-150655326-C-T c.737G>A p.G246D Missense 4/15 - 1
7-150655330-G-T c.733C>A p.P245T Missense 4/15 - 1
7-150655333-C-T c.730G>A p.A244T Missense 4/15 - 1
7-150655339-G-A c.724C>T p.R242C Missense 4/15 - 1
7-150655341-G-A c.722C>T p.P241L Missense 4/15 - 1
7-150655351-C-G c.712G>C p.G238R Missense 4/15 - 2
7-150655351-C-T c.712G>A p.G238S Missense 4/15 - 1
7-150655356-C-A c.707G>T p.G236V Missense 4/15 - 1
7-150655369-G-A c.694C>T p.R232C Missense 4/15 - 1
7-150655403-G-GT c.659dup p.N220Kfs*112 Frameshift 4/15 - 1
7-150655407-T-A c.656A>T p.D219V Missense 4/15 - 2
7-150655419-A-C c.644T>G p.V215G Missense 4/15 - 1
7-150655420-AC-A c.643del p.V215* Frameshift 4/15 - 1
7-150655434-A-G c.629T>C p.L210P Missense 4/15 - 1
7-150655438-A-C c.625T>G p.S209A Missense 4/15 - 1
7-150655446-CT-GC c.616_617delinsGC p.S206A Missense 4/15 - 1
7-150655456-C-T c.607G>A p.A203T Missense 4/15 - 1
7-150655458-G-A c.605C>T p.P202L Missense 4/15 - 1
7-150655470-A-T c.593T>A p.V198E Missense 4/15 - 2
7-150655485-G-A c.578C>T p.A193V Missense 4/15 - 1
7-150655488-C-T c.575G>A p.G192E Missense 4/15 - 1
7-150655494-G-A c.569C>T p.A190V Missense 4/15 - 1
7-150655494-G-C c.569C>G p.A190G Missense 4/15 - 1
7-150655495-C-A c.568G>T p.A190S Missense 4/15 - 1
7-150655495-C-T c.568G>A p.A190T Missense 4/15 - 3
7-150655504-C-T c.559G>A p.G187S Missense 4/15 - 1
7-150655494-GCGCCCGCGC-G c.560_568del p.G187_G189del InFrameDeletion 4/15 - 1
7-150655521-C-T c.542G>A p.R181Q Missense 4/15 - 5
7-150655525-C-A c.538G>T p.V180L Missense 4/15 - 1
7-150655525-C-G c.538G>C p.V180L Missense 4/15 - 1
7-150655526-CG-AC c.536_537delinsGT p.S179C Missense 4/15 - 1
7-150655535-CCG-ACA c.526_528delinsTGT p.R176C Missense 4/15 - 1
7-150655536-CG-GT c.526_527delinsAC p.R176T Missense 4/15 - 1
7-150655536-C-T c.527G>A p.R176Q Missense 4/15 - 3
7-150655537-G-A c.526C>T p.R176W Missense 4/15 - 59
7-150655537-G-C c.526C>G p.R176G Missense 4/15 - 1
7-150655542-G-A c.521C>T p.T174M Missense 4/15 - 5
7-150655548-G-A c.515C>T p.A172V Missense 4/15 - 1
7-150655573-G-A c.490C>T p.R164C Missense 4/15 - 4
7-150655587-C-T c.476G>A p.R159H Missense 4/15 - 1
7-150655624-T-C c.473-34A>G - IntronicSNV - 3/14 1
7-150655643-G-A c.473-53C>T - IntronicSNV - 3/14 1
7-150656660-C-A c.472G>T p.G158C Missense 3/15 - 1
7-150656673-AG-A c.459del p.W154Gfs*12 Frameshift 3/15 - 1
7-150656677-G-A c.455C>T p.T152I Missense 3/15 - 2
7-150656678-T-G c.454A>C p.T152P Missense 3/15 - 1
7-150656678-TG-T c.453del p.T152Pfs*14 Frameshift 3/15 - 4
7-150656678-T-TG c.453dup p.T152Hfs*180 Frameshift 3/15 - 3
7-150656690-G-A c.442C>T p.R148W Missense 3/15 - 9
7-150656690-G-T c.442C>A p.R148= Synonymous 3/15 - 1
7-150656701-T-A c.431A>T p.D144V Missense 3/15 - 1
7-150656713-G-A c.419C>T p.S140F Missense 3/15 - 1
7-150656713-GA-CC c.418_419delinsGG p.S140G Missense 3/15 - 1
7-150656721-C-A c.411G>T p.M137I Missense 3/15 - 1
7-150656723-T-C c.409A>G p.M137V Missense 3/15 - 1
7-150656724-TGTCCTTCTCCATCACCACCTCGAAATTG-T c.381_408del p.N128Wfs*29 Frameshift 3/15 - 1
7-150656731-T-G c.401A>C p.E134A Missense 3/15 - 1
7-150656735-T-C c.397A>G p.M133V Missense 3/15 - 1
7-150656744-C-T c.388G>A p.E130K Missense 3/15 - 1
7-150656747-A-T c.385T>A p.F129I Missense 3/15 - 1
7-150656758-A-ACCAC c.373_374insGTGG p.F125Cfs*21 Frameshift 3/15 - 1
7-150656758-A-C c.374T>G p.F125C Missense 3/15 - 2
7-150656761-A-C c.371T>G p.M124R Missense 3/15 - 11
7-150656761-A-G c.371T>C p.M124T Missense 3/15 - 3
7-150656762-T-C c.370A>G p.M124V Missense 3/15 - 1
7-150656768-C-T c.364G>A p.V122I Missense 3/15 - 2
7-150656770-GC-G c.361del p.A121Lfs*12 Frameshift 3/15 - 1
7-150656779-T-G c.353A>C p.E118A Missense 3/15 - 2
7-150656789-C-T c.343G>A p.V115M Missense 3/15 - 2
7-150656792-G-A c.340C>T p.P114S Missense 3/15 - 1
7-150656800-T-A c.332A>T p.D111V Missense 3/15 - 2
7-150656801-C-A c.331G>T p.D111Y Missense 3/15 - 1
7-150656806-A-C c.326T>G p.L109R Missense 3/15 - 1
7-150656806-A-G c.326T>C p.L109P Missense 3/15 - 3
7-150656809-C-T c.323G>A p.C108Y Missense 3/15 - 2
7-150656810-A-G c.322T>C p.C108R Missense 3/15 - 2
7-150656815-A-T c.317T>A p.F106Y Missense 3/15 - 2
7-150656814-G-C c.318C>G p.F106L Missense 3/15 - 2
7-150656814-G-T c.318C>A p.F106L Missense 3/15 - 2
7-150656816-A-G c.316T>C p.F106L Missense 3/15 - 2
7-150657095-G-A c.308-271C>T - IntronicSNV - 2/14 3
7-150657201-A-C c.308-377T>G - IntronicSNV - 2/14 1
7-150657201-A-T c.308-377T>A - IntronicSNV - 2/14 1
7-150658678-G-A c.308-1854C>T - IntronicSNV - 2/14 1
7-150661409-G-A c.308-4585C>T - IntronicSNV - 2/14 6
7-150661633-G-A c.308-4809C>T - IntronicSNV - 2/14 1
7-150667210-C-A c.307+4589G>T - IntronicSNV - 2/14 24
7-150667210-C-T c.307+4589G>A - IntronicSNV - 2/14 24
7-150668070-C-A c.307+3729G>T - IntronicSNV - 2/14 1
7-150668070-C-G c.307+3729G>C - IntronicSNV - 2/14 1
7-150668070-C-T c.307+3729G>A - IntronicSNV - 2/14 1
7-150668514-T-A c.307+3285A>T - IntronicSNV - 2/14 2
7-150668514-T-C c.307+3285A>G - IntronicSNV - 2/14 2
7-150669867-C-G c.307+1932G>C - IntronicSNV - 2/14 4
7-150669867-C-T c.307+1932G>A - IntronicSNV - 2/14 4
7-150669976-C-G c.307+1823G>C - IntronicSNV - 2/14 1
7-150671214-C-A c.307+585G>T - IntronicSNV - 2/14 5
7-150671214-C-T c.307+585G>A - IntronicSNV - 2/14 4
7-150671797-A-T c.307+2T>A - IntronicSNV - 2/14 1
7-150671801-T-A c.305A>T p.D102V Missense 2/15 - 2
7-150671801-T-G c.305A>C p.D102A Missense 2/15 - 2
7-150671802-C-G c.304G>C p.D102H Missense 2/15 - 1
7-150671804-TT-GG c.301_302delinsCC p.K101P Missense 2/15 - 1
7-150671805-T-C c.301A>G p.K101E Missense 2/15 - 6
7-150671807-C-T c.299G>A p.R100Q Missense 2/15 - 1
7-150671808-G-A c.298C>T p.R100W Missense 2/15 - 2
7-150671808-G-C c.298C>G p.R100G Missense 2/15 - 1
7-150671810-T-G c.296A>C p.Y99S Missense 2/15 - 1
7-150671813-A-G c.293T>C p.F98S Missense 2/15 - 1
7-150671819-A-G c.287T>C p.I96T Missense 2/15 - 5
7-150671820-T-C c.286A>G p.I96V Missense 2/15 - 2
7-150671822-T-C c.284A>G p.E95G Missense 2/15 - 1
7-150671825-A-C c.281T>G p.V94G Missense 2/15 - 2
7-150671826-C-T c.280G>A p.V94M Missense 2/15 - 1
7-150671829-T-C c.277A>G p.K93E Missense 2/15 - 2
7-150671830-GCG-CCA c.274_276delinsTGG p.R92W Missense 2/15 - 2
7-150671830-GC-TT c.275_276delinsAA p.R92Q Missense 2/15 - 2
7-150671831-C-A c.275G>T p.R92L Missense 2/15 - 1
7-150671838-C-T c.268G>A p.E90K Missense 2/15 - 3
7-150671840-G-A c.266C>T p.A89V Missense 2/15 - 1
7-150671846-A-G c.260T>C p.L87P Missense 2/15 - 2
7-150671849-A-C c.257T>G p.L86R Missense 2/15 - 8
7-150671849-A-G c.257T>C p.L86P Missense 2/15 - 1
7-150671852-G-A c.254C>T p.A85V Missense 2/15 - 1
7-150671853-C-G c.253G>C p.A85P Missense 2/15 - 1
7-150671853-C-T c.253G>A p.A85T Missense 2/15 - 1
7-150671857-CGC-ACA c.247_249delinsTGT p.A83C Missense 2/15 - 1
7-150671853-C-CCTGCGCGAT c.244_252dup p.I82_Q84dup InFrameInsertion 2/15 - 1
7-150671861-A-G c.245T>C p.I82T Missense 2/15 - 3
7-150671863-C-A c.243G>T p.Q81H Missense 2/15 - 2
7-150671863-C-G c.243G>C p.Q81H Missense 2/15 - 3
7-150671862-TCTGCGCGG-T c.236_243del p.A79Dfs*63 Frameshift 2/15 - 1
7-150671865-G-A c.241C>T p.Q81* Nonsense 2/15 - 4
7-150671867-GC-TG c.238_239delinsCA p.A80Q Missense 2/15 - 1
7-150671868-C-G c.238G>C p.A80P Missense 2/15 - 2
7-150671871-C-G c.235G>C p.A79P Missense 2/15 - 1
7-150671863-CTGCGCGGCAGCGCGGCGCTGCG-C c.221_242del p.T74Rfs*35 Frameshift 2/15 - 1
7-150671873-G-A c.233C>T p.A78V Missense 2/15 - 3
7-150671873-G-C c.233C>G p.A78G Missense 2/15 - 1
7-150671873-GC-CG c.232_233delinsCG p.A78R Missense 2/15 - 1
7-150671874-C-G c.232G>C p.A78P Missense 2/15 - 10
7-150671874-C-T c.232G>A p.A78T Missense 2/15 - 2
7-150671885-G-A c.221C>T p.T74M Missense 2/15 - 1
7-150671885-G-C c.221C>G p.T74R Missense 2/15 - 2
7-150671886-T-A c.220A>T p.T74S Missense 2/15 - 1
7-150671886-T-G c.220A>C p.T74P Missense 2/15 - 1
7-150671891-G-C c.215C>G p.P72R Missense 2/15 - 1
7-150671894-C-T c.212G>A p.G71E Missense 2/15 - 1
7-150671895-C-A c.211G>T p.G71W Missense 2/15 - 2
7-150671895-C-G c.211G>C p.G71R Missense 2/15 - 4
7-150671895-C-T c.211G>A p.G71R Missense 2/15 - 3
7-150671897-T-C c.209A>G p.H70R Missense 2/15 - 9
7-150671898-G-T c.208C>A p.H70N Missense 2/15 - 1
7-150671899-CAG-GTC c.205_207delinsGAC p.L69D Missense 2/15 - 1
7-150671900-A-G c.206T>C p.L69P Missense 2/15 - 3
7-150671900-AG-GC c.205_206delinsGC p.L69A Missense 2/15 - 1
7-150671900-A-T c.206T>A p.L69Q Missense 2/15 - 1
7-150671902-G-C c.204C>G p.F68L Missense 2/15 - 1
7-150671902-G-T c.204C>A p.F68L Missense 2/15 - 1
7-150671904-A-G c.202T>C p.F68L Missense 2/15 - 1
7-150671907-C-A c.199G>T p.D67Y Missense 2/15 - 1
7-150671910-A-C c.196T>G p.C66G Missense 2/15 - 9
7-150671911-G-A c.195C>T p.T65= Synonymous 2/15 - 1
7-150671911-G-C c.195C>G p.T65= Synonymous 2/15 - 1
7-150671911-G-T c.195C>A p.T65= Synonymous 2/15 - 1
7-150671912-G-C c.194C>G p.T65S Missense 2/15 - 1
7-150671913-T-A c.193A>T p.T65S Missense 2/15 - 1
7-150671913-T-G c.193A>C p.T65P Missense 2/15 - 14
7-150671914-G-C c.192C>G p.C64W Missense 2/15 - 2
7-150671914-GCA-CAT c.190_192delinsATG p.C64M Missense 2/15 - 1
7-150671915-CA-AT c.190_191delinsAT p.C64I Missense 2/15 - 1
7-150671915-CA-GC c.190_191delinsGC p.C64A Missense 2/15 - 1
7-150671915-C-T c.191G>A p.C64Y Missense 2/15 - 5
7-150671916-A-C c.190T>G p.C64G Missense 2/15 - 1
7-150671921-CG-TT c.184_185delinsAA p.R62K Missense 2/15 - 1
7-150671921-C-T c.185G>A p.R62Q Missense 2/15 - 1
7-150671924-T-A c.182A>T p.Q61L Missense 2/15 - 1
7-150671924-T-C c.182A>G p.Q61R Missense 2/15 - 2
7-150671924-TG-CC c.181_182delinsGG p.Q61G Missense 2/15 - 1
7-150671925-G-C c.181C>G p.Q61E Missense 2/15 - 1
7-150671928-T-C c.178A>G p.M60V Missense 2/15 - 1
7-150671932-C-A c.174G>T p.E58D Missense 2/15 - 5
7-150671932-C-G c.174G>C p.E58D Missense 2/15 - 5
7-150671933-T-C c.173A>G p.E58G Missense 2/15 - 1
7-150671933-T-G c.173A>C p.E58A Missense 2/15 - 3
7-150671934-C-T c.172G>A p.E58K Missense 2/15 - 2
7-150671937-C-G c.169G>C p.A57P Missense 2/15 - 4
7-150671938-CCG-GTC c.166_168delinsGAC p.R56D Missense 2/15 - 1
7-150671939-CG-TC c.166_167delinsGA p.R56E Missense 2/15 - 1
7-150671939-C-T c.167G>A p.R56Q Missense 2/15 - 38
7-150671941-GC-G c.165del p.R56Gfs*4 Frameshift 2/15 - 1
7-150671942-G-A c.164C>T p.S55L Missense 2/15 - 2
7-150671946-A-G c.160T>C p.Y54H Missense 2/15 - 4
7-150671948-C-A c.158G>T p.G53V Missense 2/15 - 1
7-150671948-C-T c.158G>A p.G53D Missense 2/15 - 4
7-150671949-C-G c.157G>C p.G53R Missense 2/15 - 9
7-150671949-C-T c.157G>A p.G53S Missense 2/15 - 4
7-150671950-G-A c.156C>T p.C52= Synonymous 2/15 - 1
7-150671954-A-G c.152T>C p.L51P Missense 2/15 - 1
7-150671954-AG-CC c.151_152delinsGG p.L51G Missense 2/15 - 1
7-150671956-C-A c.150G>T p.E50D Missense 2/15 - 4
7-150671956-C-G c.150G>C p.E50D Missense 2/15 - 3
7-150671958-C-A c.148G>T p.E50* Nonsense 2/15 - 1
7-150671960-C-T c.146G>A p.C49Y Missense 2/15 - 2
7-150671966-C-A c.140G>T p.G47V Missense 2/15 - 1
7-150671970-C-A c.136G>T p.D46Y Missense 2/15 - 1
7-150671970-C-T c.136G>A p.D46N Missense 2/15 - 1
7-150671971-G-C c.135C>G p.N45K Missense 2/15 - 1
7-150671971-G-T c.135C>A p.N45K Missense 2/15 - 1
7-150671972-T-C c.134A>G p.N45S Missense 2/15 - 1
7-150671973-T-A c.133A>T p.N45Y Missense 2/15 - 2
7-150671973-T-C c.133A>G p.N45D Missense 2/15 - 2
7-150671974-G-C c.132C>G p.C44W Missense 2/15 - 1
7-150671974-G-T c.132C>A p.C44* Nonsense 2/15 - 2
7-150671975-C-A c.131G>T p.C44F Missense 2/15 - 2
7-150671975-C-T c.131G>A p.C44Y Missense 2/15 - 1
7-150671978-TA-GC c.127_128delinsGC p.Y43A Missense 2/15 - 2
7-150671978-T-C c.128A>G p.Y43C Missense 2/15 - 8
7-150671979-A-C c.127T>G p.Y43D Missense 2/15 - 1
7-150671981-A-T c.125T>A p.I42N Missense 2/15 - 6
7-150671983-G-A c.123C>T p.V41= Synonymous 2/15 - 1
7-150671983-G-C c.123C>G p.V41= Synonymous 2/15 - 1
7-150671983-G-T c.123C>A p.V41= Synonymous 2/15 - 1
7-150671984-A-C c.122T>G p.V41G Missense 2/15 - 1
7-150671984-A-G c.122T>C p.V41A Missense 2/15 - 3
7-150671985-C-A c.121G>T p.V41F Missense 2/15 - 3
7-150671989-G-T c.117C>A p.C39* Nonsense 2/15 - 2
7-150671991-A-C c.115T>G p.C39G Missense 2/15 - 1
7-150671991-A-G c.115T>C p.C39R Missense 2/15 - 1
7-150672003-G-A c.103C>T p.R35W Missense 2/15 - 3
7-150672005-G-A c.101C>T p.A34V Missense 2/15 - 1
7-150672008-T-G c.98A>C p.N33T Missense 2/15 - 17
7-150672011-G-T c.95C>A p.A32D Missense 2/15 - 1
7-150672012-C-T c.94G>A p.A32T Missense 2/15 - 2
7-150672014-A-C c.92T>G p.I31S Missense 2/15 - 8
7-150672014-A-G c.92T>C p.I31T Missense 2/15 - 1
7-150672015-T-A c.91A>T p.I31F Missense 2/15 - 1
7-150672017-A-G c.89T>C p.I30T Missense 2/15 - 2
7-150672012-CGAT-C c.91_93del p.I31del InFrameDeletion 2/15 - 1
7-150672018-T-A c.88A>T p.I30F Missense 2/15 - 1
7-150672020-AA-GC c.85_86delinsGC p.F29A Missense 2/15 - 2
7-150672020-A-G c.86T>C p.F29S Missense 2/15 - 2
7-150672019-G-C c.87C>G p.F29L Missense 2/15 - 8
7-150672019-G-T c.87C>A p.F29L Missense 2/15 - 22
7-150672021-A-G c.85T>C p.F29L Missense 2/15 - 8
7-150672024-T-C c.82A>G p.K28E Missense 2/15 - 10
7-150672026-CG-GC c.79_80delinsGC p.R27A Missense 2/15 - 1
7-150672029-C-A c.77G>T p.S26I Missense 2/15 - 4
7-150673314-A-G c.77-1285T>C - IntronicSNV - 1/14 1
7-150674430-C-G c.76+496G>C - IntronicSNV - 1/14 4
7-150674430-C-T c.76+496G>A - IntronicSNV - 1/14 4
7-150674929-G-A c.73C>T p.Q25* Nonsense 1/15 - 3
7-150674935-C-T c.67G>A p.E23K Missense 1/15 - 3
7-150674937-A-C c.65T>G p.F22C Missense 1/15 - 1
7-150674937-A-G c.65T>C p.F22S Missense 1/15 - 2
7-150674937-A-T c.65T>A p.F22Y Missense 1/15 - 2
7-150674942-GCG-CTC c.58_60delinsGAG p.R20E Missense 1/15 - 1
7-150674943-CG-GC c.58_59delinsGC p.R20A Missense 1/15 - 1
7-150674943-CG-TC c.58_59delinsGA p.R20D Missense 1/15 - 1
7-150674944-G-C c.58C>G p.R20G Missense 1/15 - 3
7-150674946-A-C c.56T>G p.I19S Missense 1/15 - 1
7-150674946-AT-GC c.55_56delinsGC p.I19A Missense 1/15 - 1
7-150674949-A-C c.53T>G p.I18S Missense 1/15 - 1
7-150674952-G-T c.50C>A p.T17N Missense 1/15 - 1
7-150674955-T-G c.47A>C p.D16A Missense 1/15 - 3
7-150674955-TC-T c.46del p.D16Tfs*44 Frameshift 1/15 - 1
7-150674958-AG-GA c.43_44delinsTC p.L15S Missense 1/15 - 1
7-150674961-AA-GC c.40_41delinsGC p.F14A Missense 1/15 - 2
7-150674964-G-T c.38C>A p.T13N Missense 1/15 - 1
7-150674965-T-C c.37A>G p.T13A Missense 1/15 - 1
7-150674966-GTT-CTC c.34_36delinsGAG p.N12E Missense 1/15 - 1
7-150674967-TT-GC c.34_35delinsGC p.N12A Missense 1/15 - 1
7-150674985-C-G c.17G>C p.G6A Missense 1/15 - 1
7-150674984-GC-G c.17del p.G6Afs*54 Frameshift 1/15 - 1
7-150674989-T-C c.13A>G p.R5G Missense 1/15 - 1
7-150674990-C-A c.12G>T p.R4= Synonymous 1/15 - 1
7-150674990-C-G c.12G>C p.R4= Synonymous 1/15 - 1
7-150674990-C-T c.12G>A p.R4= Synonymous 1/15 - 1
7-150674992-G-T c.10C>A p.R4= Synonymous 1/15 - 1
7-150674993-C-A c.9G>T p.V3= Synonymous 1/15 - 1
7-150674993-C-G c.9G>C p.V3= Synonymous 1/15 - 1
7-150674993-C-T c.9G>A p.V3= Synonymous 1/15 - 1